Linked Data
ClinVar Variation Id:
182536
ClinVar RCV Id:
RCV000160556
RCV000212527
RCV000586205
RCV001079243
RCV001145068
RCV001798552
RCV003952800
RCV003998468
dbSNP Id:
rs146796765
ExAC:
3:37059049 A / C
gnomAD v2:
3-37059049-A-C
gnomAD v3:
3-37017558-A-C
gnomAD v4:
3-37017558-A-C
PubMed:
PMID:23047549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37017558A>C , CM000665.2:g.37017558A>C | GRCh38 |
| NC_000003.11:g.37059049A>C , CM000665.1:g.37059049A>C | GRCh37 |
| NC_000003.10:g.37034053A>C | NCBI36 |
| NG_007109.2:g.29209A>C , LRG_216:g.29209A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.843A>C | ENSP00000416476.2:p.Ala281= | |
| ENST00000429117.6:c.549A>C | ENSP00000407019.2:p.Ala183= | |
| ENST00000450420.6:c.843A>C | ENSP00000393006.2:p.Ala281= | |
| ENST00000456676.7:c.843A>C | ENSP00000416687.3:p.Ala281= | |
| ENST00000458009.6:c.843A>C | ENSP00000411066.2:p.Ala281= | |
| ENST00000492474.6:c.120A>C | ENSP00000518393.1:p.Ala40= | |
| ENST00000616768.6:c.843A>C | ENSP00000480669.3:p.Ala281= | |
| ENST00000673673.2:c.843A>C | ENSP00000500979.2:p.Ala281= | |
| ENST00000231790.8:c.843A>C MANE Select | ENSP00000231790.3:p.Ala281= | |
| ENST00000413212.2:c.67+3014A>C | ENSP00000400844.2:n.67+3014A>C | |
| ENST00000432299.6:c.*870+3014A>C | ENSP00000416783.1:n.*870+3014A>C | |
| ENST00000441265.6:c.120A>C | ENSP00000398392.2:p.Ala40= | |
| ENST00000442249.6:n.693-2752A>C | ||
| ENST00000447829.6:c.428-2752A>C | ENSP00000399329.2:n.428-2752A>C | |
| ENST00000539477.6:c.120A>C | ENSP00000443665.1:p.Ala40= | |
| ENST00000673673.1:c.796A>C | ||
| ENST00000673713.1:n.874A>C | ||
| ENST00000673715.1:c.843A>C | ENSP00000501301.1:p.Ala281= | |
| ENST00000673889.1:n.225A>C | ||
| ENST00000673897.1:c.*635A>C | ENSP00000501109.1:n.*635A>C | |
| ENST00000673899.1:c.677+5459A>C | ENSP00000501030.1:n.677+5459A>C | |
| ENST00000673947.1:c.*983A>C | ENSP00000501304.1:n.*983A>C | |
| ENST00000673972.1:c.*721A>C | ENSP00000501281.1:n.*721A>C | |
| ENST00000673990.1:n.776-2752A>C | ||
| ENST00000674019.1:c.120A>C | ENSP00000501081.1:p.Ala40= | |
| ENST00000674107.1:n.733-2752A>C | ||
| ENST00000674111.1:c.843A>C | ENSP00000501162.1:p.Ala281= | |
| ENST00000231790.6:c.843A>C | ENSP00000231790.2:p.Ala281= | |
| ENST00000413212.1:c.113+3014A>C | ||
| ENST00000435176.5:c.549A>C | ENSP00000402564.1:p.Ala183= | |
| ENST00000441265.5:c.120A>C | ENSP00000398392.1:p.Ala40= | |
| ENST00000447829.5:c.172-2752A>C | ||
| ENST00000455445.6:c.120A>C | ENSP00000398272.2:p.Ala40= | |
| ENST00000456676.6:c.818A>C | ||
| ENST00000458009.5:c.184A>C | ||
| ENST00000458205.6:c.120A>C | ENSP00000402667.2:p.Ala40= | |
| ENST00000536378.5:c.120A>C | ENSP00000444286.2:p.Ala40= | |
| ENST00000539477.5:c.120A>C | ENSP00000443665.1:p.Ala40= | |
| NM_000249.3:c.843A>C , LRG_216t1:c.843A>C | NP_000240.1:p.Ala281= | |
| NM_001167617.1:c.549A>C | NP_001161089.1:p.Ala183= | |
| NM_001167618.1:c.120A>C | NP_001161090.1:p.Ala40= | |
| NM_001167619.1:c.120A>C | NP_001161091.1:p.Ala40= | |
| NM_001258271.1:c.843A>C | NP_001245200.1:p.Ala281= | |
| NM_001258273.1:c.120A>C | NP_001245202.1:p.Ala40= | |
| NM_001258274.1:c.120A>C | NP_001245203.1:p.Ala40= | |
| XM_005265161.1:c.678-2752A>C | XP_005265218.1:n.678-2752A>C | |
| XM_005265163.1:c.120A>C | XP_005265220.1:p.Ala40= | |
| XM_005265164.1:c.120A>C | XP_005265221.1:p.Ala40= | |
| XM_005265166.1:c.-139-2752A>C | XP_005265223.1:n.-139-2752A>C | |
| XM_011533727.1:c.-37+3014A>C | XP_011532029.1:n.-37+3014A>C | |
| NM_001167617.2:c.549A>C | NP_001161089.1:p.Ala183= | |
| NM_001167618.2:c.120A>C | NP_001161090.1:p.Ala40= | |
| NM_001167619.2:c.120A>C | NP_001161091.1:p.Ala40= | |
| NM_001258274.2:c.120A>C | NP_001245203.1:p.Ala40= | |
| NM_001354615.1:c.120A>C | NP_001341544.1:p.Ala40= | |
| NM_001354616.1:c.120A>C | NP_001341545.1:p.Ala40= | |
| NM_001354617.1:c.120A>C | NP_001341546.1:p.Ala40= | |
| NM_001354618.1:c.120A>C | NP_001341547.1:p.Ala40= | |
| NM_001354619.1:c.120A>C | NP_001341548.1:p.Ala40= | |
| NM_001354620.1:c.549A>C | NP_001341549.1:p.Ala183= | |
| NM_001354621.1:c.-139-2752A>C | NP_001341550.1:n.-139-2752A>C | |
| NM_001354622.1:c.-139-2752A>C | NP_001341551.1:n.-139-2752A>C | |
| NM_001354623.1:c.-139-2752A>C | NP_001341552.1:n.-139-2752A>C | |
| NM_001354624.1:c.-37+3014A>C | NP_001341553.1:n.-37+3014A>C | |
| NM_001354625.1:c.-37+3014A>C | NP_001341554.1:n.-37+3014A>C | |
| NM_001354626.1:c.-37+3014A>C | NP_001341555.1:n.-37+3014A>C | |
| NM_001354627.1:c.-37+3014A>C | NP_001341556.1:n.-37+3014A>C | |
| NM_001354628.1:c.843A>C | NP_001341557.1:p.Ala281= | |
| NM_001354629.1:c.744A>C | NP_001341558.1:p.Ala248= | |
| NM_001354630.1:c.843A>C | NP_001341559.1:p.Ala281= | |
| XM_005265161.2:c.678-2752A>C | XP_005265218.1:n.678-2752A>C | |
| XM_017006450.2:c.-139-2752A>C | XP_016861939.1:n.-139-2752A>C | |
| NM_000249.4:c.843A>C MANE Select | NP_000240.1:p.Ala281= | |
| NM_001167617.3:c.549A>C | NP_001161089.1:p.Ala183= | |
| NM_001167618.3:c.120A>C | NP_001161090.1:p.Ala40= | |
| NM_001167619.3:c.120A>C | NP_001161091.1:p.Ala40= | |
| NM_001258271.2:c.843A>C | NP_001245200.1:p.Ala281= | |
| NM_001258273.2:c.120A>C | NP_001245202.1:p.Ala40= | |
| NM_001258274.3:c.120A>C | NP_001245203.1:p.Ala40= | |
| NM_001354615.2:c.120A>C | NP_001341544.1:p.Ala40= | |
| NM_001354616.2:c.120A>C | NP_001341545.1:p.Ala40= | |
| NM_001354617.2:c.120A>C | NP_001341546.1:p.Ala40= | |
| NM_001354618.2:c.120A>C | NP_001341547.1:p.Ala40= | |
| NM_001354619.2:c.120A>C | NP_001341548.1:p.Ala40= | |
| NM_001354620.2:c.549A>C | NP_001341549.1:p.Ala183= | |
| NM_001354621.2:c.-139-2752A>C | NP_001341550.1:n.-139-2752A>C | |
| NM_001354622.2:c.-139-2752A>C | NP_001341551.1:n.-139-2752A>C | |
| NM_001354623.2:c.-139-2752A>C | NP_001341552.1:n.-139-2752A>C | |
| NM_001354624.2:c.-37+3014A>C | NP_001341553.1:n.-37+3014A>C | |
| NM_001354625.2:c.-37+3014A>C | NP_001341554.1:n.-37+3014A>C | |
| NM_001354626.2:c.-37+3014A>C | NP_001341555.1:n.-37+3014A>C | |
| NM_001354627.2:c.-37+3014A>C | NP_001341556.1:n.-37+3014A>C | |
| NM_001354628.2:c.843A>C | NP_001341557.1:p.Ala281= | |
| NM_001354629.2:c.744A>C | NP_001341558.1:p.Ala248= | |
| NM_001354630.2:c.843A>C | NP_001341559.1:p.Ala281= |