Linked Data
dbSNP Id:
rs761986491
ExAC:
6:32170334 C / T
gnomAD v2:
6-32170334-C-T
gnomAD v3:
6-32202557-C-T
gnomAD v4:
6-32202557-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32202557C>T , CM000668.2:g.32202557C>T | GRCh38 |
| NC_000006.11:g.32170334C>T , CM000668.1:g.32170334C>T | GRCh37 |
| NC_000006.10:g.32278312C>T | NCBI36 |
| NG_028190.1:g.26511G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375023.3:c.3274G>A MANE Select | ENSP00000364163.3:p.Gly1092Ser | |
| ENST00000474612.1:n.1360G>A | ||
| NM_004557.3:c.3274G>A | NP_004548.3:p.Gly1092Ser | |
| NR_134949.1:n.3473-1057G>A | ||
| NR_134950.1:n.3371-1057G>A | ||
| NM_004557.4:c.3274G>A MANE Select | NP_004548.3:p.Gly1092Ser | |
| NR_134949.2:n.3473-1057G>A | ||
| NR_134950.2:n.3371-1057G>A |