Linked Data
ClinVar Variation Id:
17767
dbSNP Id:
rs121912748
ExAC:
17:42330695 C / T
gnomAD v2:
17-42330695-C-T
gnomAD v3:
17-44253327-C-T
gnomAD v4:
17-44253327-C-T
COSMIC:
COSM4066886
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44253327C>T , CM000679.2:g.44253327C>T | GRCh38 |
| NC_000017.10:g.42330695C>T , CM000679.1:g.42330695C>T | GRCh37 |
| NC_000017.9:g.39686221C>T | NCBI36 |
| NG_007498.1:g.19808G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262418.12:c.2102G>A MANE Select | ENSP00000262418.6:p.Gly701Asp | |
| ENST00000262418.10:c.2102G>A | ENSP00000262418.6:p.Gly701Asp | |
| ENST00000399246.3:c.1004G>A | ENSP00000382190.3:p.Gly335Asp | |
| NM_000342.3:c.2102G>A | NP_000333.1:p.Gly701Asp | |
| XM_005257593.3:c.1907G>A | XP_005257650.1:p.Gly636Asp | |
| XM_011525129.1:c.2012G>A | XP_011523431.1:p.Gly671Asp | |
| XM_011525130.1:c.2102G>A | XP_011523432.1:p.Gly701Asp | |
| XM_005257593.5:c.1907G>A | XP_005257650.1:p.Gly636Asp | |
| XM_011525129.2:c.2012G>A | XP_011523431.1:p.Gly671Asp | |
| NM_000342.4:c.2102G>A MANE Select | NP_000333.1:p.Gly701Asp |