Linked Data
dbSNP Id:
rs762652334
ExAC:
12:115112635 A / G
gnomAD v2:
12-115112635-A-G
gnomAD v4:
12-114674830-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114674830A>G , CM000674.2:g.114674830A>G | GRCh38 |
| NC_000012.11:g.115112635A>G , CM000674.1:g.115112635A>G | GRCh37 |
| NC_000012.10:g.113597018A>G | NCBI36 |
| NG_008315.1:g.14335T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349155.7:c.1045T>C MANE Select | ENSP00000257567.2:p.Cys349Arg | |
| ENST00000257566.7:c.1105T>C | ENSP00000257566.3:p.Cys369Arg | |
| ENST00000349155.6:c.1045T>C | ENSP00000257567.2:p.Cys349Arg | |
| ENST00000613550.1:c.1045T>C | ENSP00000480048.1:p.Cys349Arg | |
| NM_005996.3:c.1045T>C | NP_005987.3:p.Cys349Arg | |
| NM_016569.3:c.1105T>C | NP_057653.3:p.Cys369Arg | |
| NM_005996.4:c.1045T>C MANE Select | NP_005987.3:p.Cys349Arg | |
| NM_016569.4:c.1105T>C | NP_057653.3:p.Cys369Arg |