Linked Data
dbSNP Id:
rs977085933
gnomAD v2:
9-101205315-A-C
gnomAD v3:
9-98443033-A-C
gnomAD v4:
9-98443033-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98443033A>C , CM000671.2:g.98443033A>C | GRCh38 |
| NC_000009.11:g.101205315A>C , CM000671.1:g.101205315A>C | GRCh37 |
| NC_000009.10:g.100245136A>C | NCBI36 |
| NG_016426.1:g.271165T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.1236+10948T>G MANE Select | ENSP00000259455.2:n.1236+10948T>G | |
| ENST00000637410.1:n.1014+10948T>G | ||
| ENST00000259455.3:c.1236+10948T>G | ENSP00000259455.2:n.1236+10948T>G | |
| NM_005458.7:c.1236+10948T>G | NP_005449.5:n.1236+10948T>G | |
| XM_005252316.3:c.462+10948T>G | XP_005252373.1:n.462+10948T>G | |
| XM_005252316.5:c.462+10948T>G | XP_005252373.1:n.462+10948T>G | |
| XM_017015331.2:c.942+10948T>G | XP_016870820.1:n.942+10948T>G | |
| XM_017015332.2:c.462+10948T>G | XP_016870821.1:n.462+10948T>G | |
| NM_005458.8:c.1236+10948T>G MANE Select | NP_005449.5:n.1236+10948T>G |