Linked Data
dbSNP Id:
rs1426156215
gnomAD v2:
3-119132739-G-A
gnomAD v3:
3-119413892-G-A
gnomAD v4:
3-119413892-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119413892G>A , CM000665.2:g.119413892G>A | GRCh38 |
| NC_000003.11:g.119132739G>A , CM000665.1:g.119132739G>A | GRCh37 |
| NC_000003.10:g.120615429G>A | NCBI36 |
| NG_007665.2:g.124520G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.1963G>A MANE Select | ENSP00000264245.4:p.Glu655Lys | |
| ENST00000264245.8:c.1963G>A | ENSP00000264245.4:p.Glu655Lys | |
| NM_020754.3:c.1963G>A | NP_065805.2:p.Glu655Lys | |
| XM_005247671.3:c.1870G>A | XP_005247728.1:p.Glu624Lys | |
| XM_006713714.2:c.1903G>A | XP_006713777.1:p.Glu635Lys | |
| XM_006713714.3:c.1903G>A | XP_006713777.1:p.Glu635Lys | |
| XM_017006955.1:c.1471G>A | XP_016862444.1:p.Glu491Lys | |
| NM_020754.4:c.1963G>A MANE Select | NP_065805.2:p.Glu655Lys |