Linked Data
dbSNP Id:
rs2148178433
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29226967A>G , CM000664.2:g.29226967A>G | GRCh38 |
| NC_000002.11:g.29449833A>G , CM000664.1:g.29449833A>G | GRCh37 |
| NC_000002.10:g.29303337A>G | NCBI36 |
| NG_009445.1:g.699600T>C , LRG_488:g.699600T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3022T>C MANE Select | ENSP00000373700.3:p.Cys1008Arg | |
| ENST00000431873.6:c.188T>C | ||
| ENST00000389048.7:c.3022T>C | ENSP00000373700.3:p.Cys1008Arg | |
| ENST00000618119.4:c.1891T>C | ENSP00000482733.1:p.Cys631Arg | |
| NM_004304.4:c.3022T>C | NP_004295.2:p.Cys1008Arg | |
| XM_024452778.1:c.175T>C | XP_024308546.1:p.Cys59Arg | |
| XR_001738688.2:n.3878T>C | ||
| NM_004304.5:c.3022T>C MANE Select | NP_004295.2:p.Cys1008Arg |