Linked Data
dbSNP Id:
rs750519178
ExAC:
5:54529092 G / A
gnomAD v2:
5-54529092-G-A
gnomAD v4:
5-55233264-G-A
COSMIC:
COSM1200179
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233264G>A , CM000667.2:g.55233264G>A | GRCh38 |
| NC_000005.9:g.54529092G>A , CM000667.1:g.54529092G>A | GRCh37 |
| NC_000005.8:g.54564849G>A | NCBI36 |
| NG_034201.1:g.5454C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.260C>T MANE Select | ENSP00000282572.4:p.Ala87Val | |
| ENST00000282572.4:c.260C>T | ENSP00000282572.4:p.Ala87Val | |
| ENST00000501463.2:c.260C>T | ENSP00000422485.1:p.Ala87Val | |
| NM_021147.4:c.260C>T | NP_066970.3:p.Ala87Val | |
| NR_125346.1:n.454C>T | ||
| NR_125347.1:n.454C>T | ||
| NM_021147.5:c.260C>T MANE Select | NP_066970.3:p.Ala87Val | |
| NR_125346.2:n.345C>T | ||
| NR_125347.2:n.345C>T |