Linked Data
dbSNP Id:
rs1428863302
gnomAD v2:
19-46307557-C-T
gnomAD v3:
19-45804299-C-T
gnomAD v4:
19-45804299-C-T
COSMIC:
COSM1394692
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45804299C>T , CM000681.2:g.45804299C>T | GRCh38 |
| NC_000019.9:g.46307557C>T , CM000681.1:g.46307557C>T | GRCh37 |
| NC_000019.8:g.50999397C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221538.8:c.1606G>A MANE Select | ENSP00000221538.2:p.Asp536Asn | |
| ENST00000221538.7:c.1606G>A | ENSP00000221538.2:p.Asp536Asn | |
| ENST00000597055.1:c.1606G>A | ENSP00000472630.1:p.Asp536Asn | |
| ENST00000600188.5:c.814G>A | ENSP00000471559.1:p.Asp272Asn | |
| NM_030785.3:c.1606G>A | NP_110412.1:p.Asp536Asn | |
| XM_011527351.1:c.1606G>A | XP_011525653.1:p.Asp536Asn | |
| XM_011527351.2:c.1606G>A | XP_011525653.1:p.Asp536Asn | |
| NM_030785.4:c.1606G>A MANE Select | NP_110412.1:p.Asp536Asn |