Linked Data
ClinVar Variation Id:
745021
dbSNP Id:
rs369906164
ExAC:
3:47041618 T / C
gnomAD v2:
3-47041618-T-C
gnomAD v3:
3-47000128-T-C
gnomAD v4:
3-47000128-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47000128T>C , CM000665.2:g.47000128T>C | GRCh38 |
| NC_000003.11:g.47041618T>C , CM000665.1:g.47041618T>C | GRCh37 |
| NC_000003.10:g.47016622T>C | NCBI36 |
| NG_031914.1:g.25446T>C , LRG_568:g.25446T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450053.8:c.4029T>C MANE Select | ENSP00000415034.2:p.Asp1343= | |
| ENST00000651747.1:c.3927T>C | ENSP00000499216.1:p.Asp1309= | |
| ENST00000652744.1:n.366T>C | ||
| ENST00000416683.5:c.1960-68T>C | ||
| ENST00000450053.7:c.4029T>C | ENSP00000415034.2:p.Asp1343= | |
| NM_015175.2:c.4029T>C , LRG_568t1:c.4029T>C | NP_055990.1:p.Asp1343= | |
| XM_005264992.2:c.3927T>C | XP_005265049.1:p.Asp1309= | |
| XM_005264993.2:c.501T>C | XP_005265050.1:p.Asp167= | |
| XM_006713072.2:c.3948T>C | XP_006713135.1:p.Asp1316= | |
| XM_011533532.1:c.4008T>C | XP_011531834.1:p.Asp1336= | |
| XM_011533533.1:c.4029T>C | XP_011531835.1:p.Asp1343= | |
| XM_011533534.1:c.3660T>C | XP_011531836.1:p.Asp1220= | |
| XM_011533535.1:c.3489T>C | XP_011531837.1:p.Asp1163= | |
| XM_011533536.1:c.3375T>C | XP_011531838.1:p.Asp1125= | |
| XM_011533537.1:c.2937T>C | XP_011531839.1:p.Asp979= | |
| XR_940397.1:n.4205T>C | ||
| XR_940398.1:n.4205T>C | ||
| NM_001365116.1:c.3927T>C | NP_001352045.1:p.Asp1309= | |
| XM_006713072.3:c.3948T>C | XP_006713135.1:p.Asp1316= | |
| XM_011533533.2:c.4029T>C | XP_011531835.1:p.Asp1343= | |
| XM_017006010.1:c.4029T>C | XP_016861499.1:p.Asp1343= | |
| XM_017006011.1:c.4008T>C | XP_016861500.1:p.Asp1336= | |
| XM_017006012.1:c.3948T>C | XP_016861501.1:p.Asp1316= | |
| XM_017006013.1:c.4029T>C | XP_016861502.1:p.Asp1343= | |
| XM_017006014.1:c.3927T>C | XP_016861503.1:p.Asp1309= | |
| XM_017006015.1:c.3660T>C | XP_016861504.1:p.Asp1220= | |
| XM_017006016.1:c.3489T>C | XP_016861505.1:p.Asp1163= | |
| XM_017006017.1:c.501T>C | XP_016861506.1:p.Asp167= | |
| XR_940397.2:n.4205T>C | ||
| NM_001365116.2:c.3927T>C | NP_001352045.1:p.Asp1309= | |
| NM_015175.3:c.4029T>C MANE Select | NP_055990.1:p.Asp1343= |