Linked Data
ClinVar Variation Id:
1757901
dbSNP Id:
rs368503162
ExAC:
11:116706604 G / T
gnomAD v2:
11-116706604-G-T
gnomAD v3:
11-116835888-G-T
gnomAD v4:
11-116835888-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116835888G>T , CM000673.2:g.116835888G>T | GRCh38 |
| NC_000011.9:g.116706604G>T , CM000673.1:g.116706604G>T | GRCh37 |
| NC_000011.8:g.116211814G>T | NCBI36 |
| NG_012021.1:g.6735C>A , LRG_767:g.6735C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236850.5:c.724C>A MANE Select | ENSP00000236850.3:p.Leu242Met | |
| ENST00000236850.4:c.724C>A | ENSP00000236850.3:p.Leu242Met | |
| ENST00000359492.6:c.724C>A | ENSP00000352471.2:p.Leu242Met | |
| ENST00000375320.5:c.724C>A | ENSP00000364469.1:p.Leu242Met | |
| ENST00000375323.5:c.724C>A | ENSP00000364472.1:p.Leu242Met | |
| ENST00000375329.6:c.658C>A | ENSP00000364478.2:p.Leu220Met | |
| NM_000039.1:c.724C>A , LRG_767t1:c.724C>A | NP_000030.1:p.Leu242Met | |
| XM_005271539.2:c.724C>A | XP_005271596.1:p.Leu242Met | |
| XM_005271540.1:c.724C>A | XP_005271597.1:p.Leu242Met | |
| NM_000039.2:c.724C>A | NP_000030.1:p.Leu242Met | |
| NM_001318017.1:c.724C>A | NP_001304946.1:p.Leu242Met | |
| NM_001318018.1:c.724C>A | NP_001304947.1:p.Leu242Met | |
| NM_001318021.1:c.397C>A | NP_001304950.1:p.Leu133Met | |
| NM_001318017.2:c.724C>A | NP_001304946.1:p.Leu242Met | |
| NM_001318018.2:c.724C>A | NP_001304947.1:p.Leu242Met | |
| NM_000039.3:c.724C>A MANE Select | NP_000030.1:p.Leu242Met |