Linked Data
ClinVar Variation Id:
970435
dbSNP Id:
rs1052723403
gnomAD v3:
16-3728921-C-A
gnomAD v4:
16-3728921-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728921C>A , CM000678.2:g.3728921C>A | GRCh38 |
| NC_000016.9:g.3778922C>A , CM000678.1:g.3778922C>A | GRCh37 |
| NC_000016.8:g.3718923C>A | NCBI36 |
| NG_009873.1:g.156200G>T | |
| NG_009873.2:g.156793G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6126G>T MANE Select | ENSP00000262367.5:p.Met2042Ile | |
| ENST00000262367.9:c.6126G>T | ENSP00000262367.5:p.Met2042Ile | |
| ENST00000382070.7:c.6012G>T | ENSP00000371502.3:p.Met2004Ile | |
| NM_001079846.1:c.6012G>T | NP_001073315.1:p.Met2004Ile | |
| NM_004380.2:c.6126G>T | NP_004371.2:p.Met2042Ile | |
| XM_005255124.3:c.6081G>T | XP_005255181.1:p.Met2027Ile | |
| XM_005255125.3:c.5709G>T | XP_005255182.1:p.Met1903Ile | |
| XM_006720848.2:c.5865G>T | XP_006720911.1:p.Met1955Ile | |
| XM_011522380.1:c.6072G>T | XP_011520682.1:p.Met2024Ile | |
| XM_011522381.1:c.5373G>T | XP_011520683.1:p.Met1791Ile | |
| XM_005255124.4:c.6081G>T | XP_005255181.1:p.Met2027Ile | |
| XM_005255125.4:c.5709G>T | XP_005255182.1:p.Met1903Ile | |
| XM_006720848.3:c.5865G>T | XP_006720911.1:p.Met1955Ile | |
| XM_011522381.2:c.5373G>T | XP_011520683.1:p.Met1791Ile | |
| XM_017022944.1:c.6120G>T | XP_016878433.1:p.Met2040Ile | |
| NM_004380.3:c.6126G>T MANE Select | NP_004371.2:p.Met2042Ile |