Linked Data
ClinVar Variation Id:
18177
ClinVar RCV Id:
RCV000019808
dbSNP Id:
rs121909533
gnomAD v4:
16-30068824-A-G
PubMed:
PMID:2825199
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30068824A>G , CM000678.2:g.30068824A>G | GRCh38 |
| NC_000016.9:g.30080145A>G , CM000678.1:g.30080145A>G | GRCh37 |
| NC_000016.8:g.29987646A>G | NCBI36 |
| NG_008010.1:g.20655A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338110.11:c.*895A>G | ENSP00000336927.6:n.*895A>G | |
| ENST00000338110.10:c.*895A>G | ENSP00000336927.6:n.*895A>G | |
| ENST00000395248.6:c.*568A>G | ENSP00000378669.2:n.*568A>G | |
| ENST00000566897.6:c.*895A>G | ENSP00000455724.2:n.*895A>G | |
| ENST00000642816.3:c.548A>G MANE Select | ENSP00000496166.1:p.Asp183Gly | |
| ENST00000643777.4:c.386A>G | ENSP00000494188.2:p.Asp129Gly | |
| ENST00000338110.9:c.386A>G | ENSP00000336927.5:p.Asp129Gly | |
| ENST00000395240.7:c.386A>G | ENSP00000378661.3:p.Asp129Gly | |
| ENST00000395248.5:c.548A>G | ENSP00000378669.1:p.Asp183Gly | |
| ENST00000412304.6:c.386A>G | ENSP00000400452.2:p.Asp129Gly | |
| ENST00000562168.5:c.353A>G | ENSP00000456020.1:p.Asp118Gly | |
| ENST00000562679.5:c.548A>G | ENSP00000455455.1:p.Asp183Gly | |
| ENST00000563060.6:c.386A>G | ENSP00000455800.2:p.Asp129Gly | |
| ENST00000563987.5:c.386A>G | ENSP00000457643.1:p.Asp129Gly | |
| ENST00000564521.6:n.1580A>G | ||
| ENST00000564546.5:c.386A>G | ENSP00000455917.1:p.Asp129Gly | |
| ENST00000564595.6:c.548A>G | ENSP00000457468.2:p.Asp183Gly | |
| ENST00000564688.1:c.221A>G | ENSP00000457514.1:p.Asp74Gly | |
| ENST00000566846.5:c.353A>G | ENSP00000454499.1:p.Asp118Gly | |
| ENST00000566897.5:c.386A>G | ENSP00000455724.1:p.Asp129Gly | |
| ENST00000569545.5:c.386A>G | ENSP00000455700.1:p.Asp129Gly | |
| ENST00000569798.5:c.386A>G | ENSP00000455857.1:p.Asp129Gly | |
| ENST00000627059.2:c.386A>G | ENSP00000485952.1:p.Asp129Gly | |
| NM_000034.3:c.386A>G | NP_000025.1:p.Asp129Gly | |
| NM_001127617.2:c.386A>G | NP_001121089.1:p.Asp129Gly | |
| NM_001243177.1:c.548A>G | NP_001230106.1:p.Asp183Gly | |
| NM_184041.2:c.386A>G | NP_908930.1:p.Asp129Gly | |
| NM_184043.2:c.386A>G | NP_908932.1:p.Asp129Gly | |
| XM_011545767.1:c.386A>G | XP_011544069.1:p.Asp129Gly | |
| XM_011545768.1:c.386A>G | XP_011544070.1:p.Asp129Gly | |
| NM_001243177.2:c.548A>G | NP_001230106.1:p.Asp183Gly | |
| NM_001365304.1:c.*895A>G | NP_001352233.1:n.*895A>G | |
| NM_001365305.1:c.*895A>G | NP_001352234.1:n.*895A>G | |
| NM_001365307.1:c.*895A>G | NP_001352236.1:n.*895A>G | |
| NM_184041.3:c.386A>G | NP_908930.1:p.Asp129Gly | |
| XM_024450192.1:c.386A>G | XP_024305960.1:p.Asp129Gly | |
| XM_024450193.1:c.386A>G | XP_024305961.1:p.Asp129Gly | |
| NM_001243177.3:c.548A>G | NP_001230106.1:p.Asp183Gly | |
| NM_001365307.2:c.*895A>G | NP_001352236.1:n.*895A>G | |
| NM_184041.4:c.386A>G | NP_908930.1:p.Asp129Gly | |
| NM_001243177.4:c.548A>G MANE Select | NP_001230106.1:p.Asp183Gly | |
| NM_001365304.2:c.*895A>G | NP_001352233.1:n.*895A>G | |
| NM_001365305.2:c.*895A>G | NP_001352234.1:n.*895A>G | |
| NM_184041.5:c.386A>G | NP_908930.1:p.Asp129Gly |