Linked Data
ClinVar Variation Id:
1538554
dbSNP Id:
rs201383580
ExAC:
17:10543054 G / A
gnomAD v2:
17-10543054-G-A
gnomAD v3:
17-10639737-G-A
gnomAD v4:
17-10639737-G-A
COSMIC:
COSM3770113
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10639737G>A , CM000679.2:g.10639737G>A | GRCh38 |
| NC_000017.10:g.10543054G>A , CM000679.1:g.10543054G>A | GRCh37 |
| NC_000017.9:g.10483779G>A | NCBI36 |
| NG_011537.1:g.22562C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000583535.6:c.2748C>T MANE Select | ENSP00000464317.1:p.Leu916= | |
| ENST00000583535.5:c.2748C>T | ENSP00000464317.1:p.Leu916= | |
| NM_002470.3:c.2748C>T | NP_002461.2:p.Leu916= | |
| XM_011523870.1:c.2748C>T | XP_011522172.1:p.Leu916= | |
| XM_011523871.1:c.2748C>T | XP_011522173.1:p.Leu916= | |
| XM_011523872.1:c.2748C>T | XP_011522174.1:p.Leu916= | |
| XM_011523870.3:c.2748C>T | XP_011522172.1:p.Leu916= | |
| XM_011523871.2:c.2748C>T | XP_011522173.1:p.Leu916= | |
| NM_002470.4:c.2748C>T MANE Select | NP_002461.2:p.Leu916= |