Linked Data
ClinVar Variation Id:
67383
ClinVar RCV Id:
RCV000058104
dbSNP Id:
rs199472993
gnomAD v4:
7-150950267-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150950267C>A , CM000669.2:g.150950267C>A | GRCh38 |
| NC_000007.13:g.150647355C>A , CM000669.1:g.150647355C>A | GRCh37 |
| NC_000007.12:g.150278288C>A | NCBI36 |
| NG_008916.1:g.32660G>T , LRG_288:g.32660G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461280.2:n.1597G>T | ||
| ENST00000684241.1:n.3132G>T | ||
| ENST00000262186.10:c.2299G>T MANE Select | ENSP00000262186.5:p.Asp767Tyr | |
| ENST00000330883.9:c.1279G>T | ENSP00000328531.4:p.Asp427Tyr | |
| ENST00000262186.9:c.2299G>T | ENSP00000262186.5:p.Asp767Tyr | |
| ENST00000330883.8:c.1279G>T | ENSP00000328531.4:p.Asp427Tyr | |
| ENST00000430723.4:c.1951G>T | ENSP00000387657.4:p.Asp651Tyr | |
| ENST00000461280.1:n.1586G>T | ||
| ENST00000473610.5:n.1931G>T | ||
| ENST00000532957.5:n.2522G>T | ||
| NM_000238.3:c.2299G>T , LRG_288t1:c.2299G>T | NP_000229.1:p.Asp767Tyr | |
| NM_001204798.1:c.1279G>T | NP_001191727.1:p.Asp427Tyr | |
| NM_172056.2:c.2299G>T , LRG_288t2:c.2299G>T | NP_742053.1:p.Asp767Tyr | |
| NM_172057.2:c.1279G>T , LRG_288t3:c.1279G>T | NP_742054.1:p.Asp427Tyr | |
| XM_011516185.1:c.1999G>T | XP_011514487.1:p.Asp667Tyr | |
| XM_011516186.1:c.2299G>T | XP_011514488.1:p.Asp767Tyr | |
| XM_011516185.2:c.1999G>T | XP_011514487.1:p.Asp667Tyr | |
| XM_011516186.3:c.2299G>T | XP_011514488.1:p.Asp767Tyr | |
| XM_017012195.1:c.2149G>T | XP_016867684.1:p.Asp717Tyr | |
| XM_017012196.1:c.2122G>T | XP_016867685.1:p.Asp708Tyr | |
| NM_000238.4:c.2299G>T MANE Select | NP_000229.1:p.Asp767Tyr | |
| NM_001204798.2:c.1279G>T | NP_001191727.1:p.Asp427Tyr | |
| NM_172057.3:c.1279G>T | NP_742054.1:p.Asp427Tyr |