Linked Data
ClinVar Variation Id:
3030577
ClinVar RCV Id:
RCV003892268
dbSNP Id:
rs902427004
gnomAD v2:
11-116706765-G-A
gnomAD v3:
11-116836049-G-A
gnomAD v4:
11-116836049-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116836049G>A , CM000673.2:g.116836049G>A | GRCh38 |
| NC_000011.9:g.116706765G>A , CM000673.1:g.116706765G>A | GRCh37 |
| NC_000011.8:g.116211975G>A | NCBI36 |
| NG_012021.1:g.6574C>T , LRG_767:g.6574C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236850.5:c.563C>T MANE Select | ENSP00000236850.3:p.Ala188Val | |
| ENST00000236850.4:c.563C>T | ENSP00000236850.3:p.Ala188Val | |
| ENST00000359492.6:c.563C>T | ENSP00000352471.2:p.Ala188Val | |
| ENST00000375320.5:c.563C>T | ENSP00000364469.1:p.Ala188Val | |
| ENST00000375323.5:c.563C>T | ENSP00000364472.1:p.Ala188Val | |
| ENST00000375329.6:c.497C>T | ENSP00000364478.2:p.Ala166Val | |
| NM_000039.1:c.563C>T , LRG_767t1:c.563C>T | NP_000030.1:p.Ala188Val | |
| XM_005271539.2:c.563C>T | XP_005271596.1:p.Ala188Val | |
| XM_005271540.1:c.563C>T | XP_005271597.1:p.Ala188Val | |
| NM_000039.2:c.563C>T | NP_000030.1:p.Ala188Val | |
| NM_001318017.1:c.563C>T | NP_001304946.1:p.Ala188Val | |
| NM_001318018.1:c.563C>T | NP_001304947.1:p.Ala188Val | |
| NM_001318021.1:c.236C>T | NP_001304950.1:p.Ala79Val | |
| NM_001318017.2:c.563C>T | NP_001304946.1:p.Ala188Val | |
| NM_001318018.2:c.563C>T | NP_001304947.1:p.Ala188Val | |
| NM_000039.3:c.563C>T MANE Select | NP_000030.1:p.Ala188Val |