Linked Data
dbSNP Id:
rs759553972
gnomAD v2:
1-197112587-G-T
gnomAD v3:
1-197143457-G-T
gnomAD v4:
1-197143457-G-T
COSMIC:
COSM6315552
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197143457G>T , CM000663.2:g.197143457G>T | GRCh38 |
| NC_000001.10:g.197112587G>T , CM000663.1:g.197112587G>T | GRCh37 |
| NC_000001.9:g.195379210G>T | NCBI36 |
| NG_015867.1:g.8238C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367409.9:c.795C>A MANE Select | ENSP00000356379.4:p.Asn265Lys | |
| ENST00000679766.1:n.1012C>A | ||
| ENST00000680265.1:c.795C>A | ENSP00000505384.1:p.Asn265Lys | |
| ENST00000680710.1:c.795C>A | ENSP00000506676.1:p.Asn265Lys | |
| ENST00000681879.1:c.795C>A | ENSP00000505363.1:p.Asn265Lys | |
| ENST00000294732.11:c.795C>A | ENSP00000294732.7:p.Asn265Lys | |
| ENST00000367409.8:c.795C>A | ENSP00000356379.4:p.Asn265Lys | |
| ENST00000612785.1:c.561+234C>A | ENSP00000479244.1:n.561+234C>A | |
| NM_001206846.1:c.795C>A | NP_001193775.1:p.Asn265Lys | |
| NM_018136.4:c.795C>A | NP_060606.3:p.Asn265Lys | |
| NM_018136.5:c.795C>A MANE Select | NP_060606.3:p.Asn265Lys | |
| NM_001206846.2:c.795C>A | NP_001193775.1:p.Asn265Lys |