Linked Data
ClinVar Variation Id:
17099
ClinVar RCV Id:
RCV000202172
RCV000213700
RCV000519240
RCV000763105
RCV000524270
RCV001328323
RCV002288511
RCV000018632
RCV000075495
dbSNP Id:
rs63750217
gnomAD v4:
3-37048955-G-A
PubMed:
PMID:16
PMID:8880570
PMID:9697702
PMID:10037723
PMID:11427529
PMID:12810663
PMID:15864295
PMID:16083711
PMID:16451135
PMID:16807412
PMID:17054581
PMID:17210669
PMID:17505997
PMID:17510385
PMID:17594722
PMID:18033691
PMID:18561205
PMID:19669161
PMID:21120944
PMID:21404117
PMID:21642682
PMID:22736432
PMID:23354017
PMID:23403630
PMID:24362816
PMID:28874130
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37048955G>A , CM000665.2:g.37048955G>A | GRCh38 |
| NC_000003.11:g.37090446G>A , CM000665.1:g.37090446G>A | GRCh37 |
| NC_000003.10:g.37065450G>A | NCBI36 |
| NG_007109.2:g.60606G>A , LRG_216:g.60606G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.1668-1531G>A | ENSP00000416476.2:n.1668-1531G>A | |
| ENST00000429117.6:c.1747G>A | ENSP00000407019.2:p.Ala583Thr | |
| ENST00000450420.6:c.1559-1531G>A | ENSP00000393006.2:n.1559-1531G>A | |
| ENST00000456676.7:c.1896+1272G>A | ENSP00000416687.3:n.1896+1272G>A | |
| ENST00000492474.6:c.1318G>A | ENSP00000518393.1:p.Ala440Thr | |
| ENST00000616768.6:c.1948G>A | ENSP00000480669.3:p.Ala650Thr | |
| ENST00000673673.2:c.1876G>A | ENSP00000500979.2:p.Ala626Thr | |
| ENST00000231790.8:c.2041G>A MANE Select | ENSP00000231790.3:p.Ala681Thr | |
| ENST00000413212.2:c.*959G>A | ENSP00000400844.2:n.*959G>A | |
| ENST00000432299.6:c.*1873G>A | ENSP00000416783.1:n.*1873G>A | |
| ENST00000447829.6:c.*1152G>A | ENSP00000399329.2:n.*1152G>A | |
| ENST00000539477.6:c.1318G>A | ENSP00000443665.1:p.Ala440Thr | |
| ENST00000616768.5:c.985G>A | ENSP00000480669.2:p.Ala329Thr | |
| ENST00000673673.1:c.1829G>A | ||
| ENST00000673741.1:n.1075G>A | ||
| ENST00000673889.1:n.1423G>A | ||
| ENST00000673897.1:c.*1833G>A | ENSP00000501109.1:n.*1833G>A | |
| ENST00000673899.1:c.1309G>A | ENSP00000501030.1:p.Ala437Thr | |
| ENST00000673947.1:c.*2181G>A | ENSP00000501304.1:n.*2181G>A | |
| ENST00000673972.1:c.*1919G>A | ENSP00000501281.1:n.*1919G>A | |
| ENST00000674019.1:c.1318G>A | ENSP00000501081.1:p.Ala440Thr | |
| ENST00000674111.1:c.*270G>A | ENSP00000501162.1:n.*270G>A | |
| ENST00000674125.1:n.752G>A | ||
| ENST00000231790.6:c.2041G>A | ENSP00000231790.2:p.Ala681Thr | |
| ENST00000413740.1:c.291-1531G>A | ENSP00000416476.1:n.291-1531G>A | |
| ENST00000435176.5:c.1747G>A | ENSP00000402564.1:p.Ala583Thr | |
| ENST00000450420.5:c.182-1531G>A | ENSP00000393006.1:n.182-1531G>A | |
| ENST00000455445.6:c.1318G>A | ENSP00000398272.2:p.Ala440Thr | |
| ENST00000456676.6:c.1871+1272G>A | ||
| ENST00000458205.6:c.1318G>A | ENSP00000402667.2:p.Ala440Thr | |
| ENST00000536378.5:c.1318G>A | ENSP00000444286.2:p.Ala440Thr | |
| ENST00000539477.5:c.1318G>A | ENSP00000443665.1:p.Ala440Thr | |
| NM_000249.3:c.2041G>A , LRG_216t1:c.2041G>A | NP_000240.1:p.Ala681Thr | |
| NM_001167617.1:c.1747G>A | NP_001161089.1:p.Ala583Thr | |
| NM_001167618.1:c.1318G>A | NP_001161090.1:p.Ala440Thr | |
| NM_001167619.1:c.1318G>A | NP_001161091.1:p.Ala440Thr | |
| NM_001258271.1:c.1896+1272G>A | NP_001245200.1:n.1896+1272G>A | |
| NM_001258273.1:c.1318G>A | NP_001245202.1:p.Ala440Thr | |
| NM_001258274.1:c.1318G>A | NP_001245203.1:p.Ala440Thr | |
| XM_005265161.1:c.1834G>A | XP_005265218.1:p.Ala612Thr | |
| XM_005265163.1:c.1318G>A | XP_005265220.1:p.Ala440Thr | |
| XM_005265164.1:c.1318G>A | XP_005265221.1:p.Ala440Thr | |
| XM_005265166.1:c.1018G>A | XP_005265223.1:p.Ala340Thr | |
| XM_011533727.1:c.967G>A | XP_011532029.1:p.Ala323Thr | |
| NM_001167617.2:c.1747G>A | NP_001161089.1:p.Ala583Thr | |
| NM_001167618.2:c.1318G>A | NP_001161090.1:p.Ala440Thr | |
| NM_001167619.2:c.1318G>A | NP_001161091.1:p.Ala440Thr | |
| NM_001258274.2:c.1318G>A | NP_001245203.1:p.Ala440Thr | |
| NM_001354615.1:c.1318G>A | NP_001341544.1:p.Ala440Thr | |
| NM_001354616.1:c.1318G>A | NP_001341545.1:p.Ala440Thr | |
| NM_001354617.1:c.1318G>A | NP_001341546.1:p.Ala440Thr | |
| NM_001354618.1:c.1318G>A | NP_001341547.1:p.Ala440Thr | |
| NM_001354619.1:c.1318G>A | NP_001341548.1:p.Ala440Thr | |
| NM_001354620.1:c.1747G>A | NP_001341549.1:p.Ala583Thr | |
| NM_001354621.1:c.1018G>A | NP_001341550.1:p.Ala340Thr | |
| NM_001354622.1:c.1018G>A | NP_001341551.1:p.Ala340Thr | |
| NM_001354623.1:c.1018G>A | NP_001341552.1:p.Ala340Thr | |
| NM_001354624.1:c.967G>A | NP_001341553.1:p.Ala323Thr | |
| NM_001354625.1:c.967G>A | NP_001341554.1:p.Ala323Thr | |
| NM_001354626.1:c.967G>A | NP_001341555.1:p.Ala323Thr | |
| NM_001354627.1:c.967G>A | NP_001341556.1:p.Ala323Thr | |
| NM_001354628.1:c.1948G>A | NP_001341557.1:p.Ala650Thr | |
| NM_001354629.1:c.1942G>A | NP_001341558.1:p.Ala648Thr | |
| NM_001354630.1:c.1876G>A | NP_001341559.1:p.Ala626Thr | |
| XM_005265161.2:c.1834G>A | XP_005265218.1:p.Ala612Thr | |
| XM_017006450.2:c.1018G>A | XP_016861939.1:p.Ala340Thr | |
| NM_000249.4:c.2041G>A MANE Select | NP_000240.1:p.Ala681Thr | |
| NM_001167617.3:c.1747G>A | NP_001161089.1:p.Ala583Thr | |
| NM_001167618.3:c.1318G>A | NP_001161090.1:p.Ala440Thr | |
| NM_001167619.3:c.1318G>A | NP_001161091.1:p.Ala440Thr | |
| NM_001258271.2:c.1896+1272G>A | NP_001245200.1:n.1896+1272G>A | |
| NM_001258273.2:c.1318G>A | NP_001245202.1:p.Ala440Thr | |
| NM_001258274.3:c.1318G>A | NP_001245203.1:p.Ala440Thr | |
| NM_001354615.2:c.1318G>A | NP_001341544.1:p.Ala440Thr | |
| NM_001354616.2:c.1318G>A | NP_001341545.1:p.Ala440Thr | |
| NM_001354617.2:c.1318G>A | NP_001341546.1:p.Ala440Thr | |
| NM_001354618.2:c.1318G>A | NP_001341547.1:p.Ala440Thr | |
| NM_001354619.2:c.1318G>A | NP_001341548.1:p.Ala440Thr | |
| NM_001354620.2:c.1747G>A | NP_001341549.1:p.Ala583Thr | |
| NM_001354621.2:c.1018G>A | NP_001341550.1:p.Ala340Thr | |
| NM_001354622.2:c.1018G>A | NP_001341551.1:p.Ala340Thr | |
| NM_001354623.2:c.1018G>A | NP_001341552.1:p.Ala340Thr | |
| NM_001354624.2:c.967G>A | NP_001341553.1:p.Ala323Thr | |
| NM_001354625.2:c.967G>A | NP_001341554.1:p.Ala323Thr | |
| NM_001354626.2:c.967G>A | NP_001341555.1:p.Ala323Thr | |
| NM_001354627.2:c.967G>A | NP_001341556.1:p.Ala323Thr | |
| NM_001354628.2:c.1948G>A | NP_001341557.1:p.Ala650Thr | |
| NM_001354629.2:c.1942G>A | NP_001341558.1:p.Ala648Thr | |
| NM_001354630.2:c.1876G>A | NP_001341559.1:p.Ala626Thr |