Linked Data
dbSNP Id:
rs758701481
ExAC:
13:33629273 C / A
gnomAD v2:
13-33629273-C-A
gnomAD v4:
13-33055136-C-A
COSMIC:
COSM1677603
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33055136C>A , CM000675.2:g.33055136C>A | GRCh38 |
| NC_000013.10:g.33629273C>A , CM000675.1:g.33629273C>A | GRCh37 |
| NC_000013.9:g.32527273C>A | NCBI36 |
| NG_011485.1:g.43703C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380099.4:c.1420C>A MANE Select | ENSP00000369442.3:p.Arg474Ser | |
| ENST00000380099.3:c.1420C>A | ENSP00000369442.3:p.Arg474Ser | |
| ENST00000487852.1:n.1428C>A | ||
| NM_004795.3:c.1420C>A | NP_004786.2:p.Arg474Ser | |
| XM_006719895.1:c.499C>A | XP_006719958.1:p.Arg167Ser | |
| XM_006719895.2:c.499C>A | XP_006719958.1:p.Arg167Ser | |
| NM_004795.4:c.1420C>A MANE Select | NP_004786.2:p.Arg474Ser |