Linked Data
dbSNP Id:
rs1211996037
gnomAD v2:
X-49072964-A-G
gnomAD v3:
X-49216504-A-G
gnomAD v4:
X-49216504-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49216504A>G , CM000685.2:g.49216504A>G | GRCh38 |
| NC_000023.10:g.49072964A>G , CM000685.1:g.49072964A>G | GRCh37 |
| NC_000023.9:g.48959908A>G | NCBI36 |
| NG_009095.2:g.21863T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323022.10:c.3114T>C MANE Select | ENSP00000321618.6:p.Asp1038= | |
| ENST00000323022.9:c.3114T>C | ENSP00000321618.5:p.Asp1038= | |
| ENST00000376251.5:c.2952T>C | ENSP00000365427.1:p.Asp984= | |
| ENST00000376265.2:c.3147T>C | ENSP00000365441.2:p.Asp1049= | |
| NM_001256789.2:c.3114T>C | NP_001243718.1:p.Asp1038= | |
| NM_001256790.2:c.2952T>C | NP_001243719.1:p.Asp984= | |
| NM_005183.3:c.3147T>C | NP_005174.2:p.Asp1049= | |
| XM_011543983.1:c.2952T>C | XP_011542285.1:p.Asp984= | |
| XM_011543983.2:c.2952T>C | XP_011542285.1:p.Asp984= | |
| XM_017029836.1:c.381T>C | XP_016885325.1:p.Asp127= | |
| NM_001256789.3:c.3114T>C MANE Select | NP_001243718.1:p.Asp1038= | |
| NM_001256790.3:c.2952T>C | NP_001243719.1:p.Asp984= | |
| NM_005183.4:c.3147T>C | NP_005174.2:p.Asp1049= |