Linked Data
ClinVar Variation Id:
14420
dbSNP Id:
rs121912504
gnomAD v4:
7-150951711-G-A
PubMed:
PMID:7889573
PMID:8877771
PMID:9024139
PMID:9927399
PMID:10753933
PMID:10973849
PMID:11113008
PMID:11468227
PMID:11668638
PMID:11854117
PMID:15051636
PMID:15280442
PMID:15840476
PMID:16432067
PMID:17160940
PMID:17445409
PMID:18441445
PMID:18593567
PMID:19716085
PMID:19841300
PMID:22581653
PMID:22949429
PMID:23303164
PMID:24606995
PMID:24623279
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150951711G>A , CM000669.2:g.150951711G>A | GRCh38 |
| NC_000007.13:g.150648799G>A , CM000669.1:g.150648799G>A | GRCh37 |
| NC_000007.12:g.150279732G>A | NCBI36 |
| NG_008916.1:g.31216C>T , LRG_288:g.31216C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461280.2:n.980C>T | ||
| ENST00000684241.1:n.2515C>T | ||
| ENST00000262186.10:c.1682C>T MANE Select | ENSP00000262186.5:p.Ala561Val | |
| ENST00000330883.9:c.662C>T | ENSP00000328531.4:p.Ala221Val | |
| ENST00000262186.9:c.1682C>T | ENSP00000262186.5:p.Ala561Val | |
| ENST00000330883.8:c.662C>T | ENSP00000328531.4:p.Ala221Val | |
| ENST00000430723.4:c.1334C>T | ENSP00000387657.4:p.Ala445Val | |
| ENST00000461280.1:n.969C>T | ||
| ENST00000473610.5:n.987C>T | ||
| ENST00000532957.5:n.1905C>T | ||
| NM_000238.3:c.1682C>T , LRG_288t1:c.1682C>T | NP_000229.1:p.Ala561Val | |
| NM_001204798.1:c.662C>T | NP_001191727.1:p.Ala221Val | |
| NM_172056.2:c.1682C>T , LRG_288t2:c.1682C>T | NP_742053.1:p.Ala561Val | |
| NM_172057.2:c.662C>T , LRG_288t3:c.662C>T | NP_742054.1:p.Ala221Val | |
| XM_011516185.1:c.1382C>T | XP_011514487.1:p.Ala461Val | |
| XM_011516186.1:c.1682C>T | XP_011514488.1:p.Ala561Val | |
| XM_011516185.2:c.1382C>T | XP_011514487.1:p.Ala461Val | |
| XM_011516186.3:c.1682C>T | XP_011514488.1:p.Ala561Val | |
| XM_017012195.1:c.1532C>T | XP_016867684.1:p.Ala511Val | |
| XM_017012196.1:c.1505C>T | XP_016867685.1:p.Ala502Val | |
| NM_000238.4:c.1682C>T MANE Select | NP_000229.1:p.Ala561Val | |
| NM_001204798.2:c.662C>T | NP_001191727.1:p.Ala221Val | |
| NM_172057.3:c.662C>T | NP_742054.1:p.Ala221Val |