Linked Data
dbSNP Id:
rs121918669
ExAC:
1:115576077 G / A
gnomAD v2:
1-115576077-G-A
gnomAD v3:
1-115033456-G-A
gnomAD v4:
1-115033456-G-A
COSMIC:
COSM894304
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115033456G>A , CM000663.2:g.115033456G>A | GRCh38 |
| NC_000001.10:g.115576077G>A , CM000663.1:g.115576077G>A | GRCh37 |
| NC_000001.9:g.115377600G>A | NCBI36 |
| NG_015891.1:g.8663G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256592.3:c.94G>A MANE Select | ENSP00000256592.1:p.Glu32Lys | |
| ENST00000256592.2:c.94G>A | ENSP00000256592.1:p.Glu32Lys | |
| ENST00000369517.1:c.94G>A | ENSP00000358530.1:p.Glu32Lys | |
| NM_000549.4:c.94G>A | NP_000540.2:p.Glu32Lys | |
| XM_011542065.1:c.94G>A | XP_011540367.1:p.Glu32Lys | |
| XM_011542065.2:c.94G>A | XP_011540367.1:p.Glu32Lys | |
| NM_000549.5:c.94G>A MANE Select | NP_000540.2:p.Glu32Lys |