Linked Data
ClinVar Variation Id:
375490
ClinVar RCV Id:
RCV000416973
dbSNP Id:
rs1057519514
PubMed:
PMID:27939639
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9745069C>G , CM000665.2:g.9745069C>G | GRCh38 |
| NC_000003.11:g.9786753C>G , CM000665.1:g.9786753C>G | GRCh37 |
| NC_000003.10:g.9761753C>G | NCBI36 |
| NG_012106.1:g.126C>G | |
| NG_052955.1:g.18341C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000424362.7:c.2979C>G | ENSP00000398863.2:p.Tyr993Ter | |
| ENST00000457855.2:c.2961C>G | ENSP00000410210.2:p.Tyr987Ter | |
| ENST00000497565.3:n.1601C>G | ||
| ENST00000672126.2:c.*596C>G | ENSP00000500718.1:n.*596C>G | |
| ENST00000672515.2:c.2979C>G | ENSP00000499951.2:p.Tyr993Ter | |
| ENST00000673551.2:c.*1105C>G | ENSP00000500672.1:n.*1105C>G | |
| ENST00000682208.1:c.2961C>G | ENSP00000508123.1:p.Tyr987Ter | |
| ENST00000682980.1:c.2694C>G | ENSP00000508198.1:p.Tyr898Ter | |
| ENST00000683423.1:c.*469C>G | ENSP00000507659.1:n.*469C>G | |
| ENST00000683639.1:c.2964C>G | ENSP00000506903.1:p.Tyr988Ter | |
| ENST00000683743.1:c.2964C>G | ENSP00000507469.1:p.Tyr988Ter | |
| ENST00000684199.1:c.2982C>G | ENSP00000506921.1:p.Tyr994Ter | |
| ENST00000684206.1:c.2676C>G | ENSP00000507148.1:p.Tyr892Ter | |
| ENST00000684333.1:c.2961C>G | ENSP00000508256.1:p.Tyr987Ter | |
| ENST00000684573.1:c.701C>G | ||
| ENST00000684608.1:c.*1108C>G | ENSP00000507969.1:n.*1108C>G | |
| ENST00000383829.7:c.2982C>G MANE Select | ENSP00000373340.2:p.Tyr994Ter | |
| ENST00000424362.6:c.2961C>G | ENSP00000398863.1:p.Tyr987Ter | |
| ENST00000497565.2:n.1601C>G | ||
| ENST00000672126.1:c.2897C>G | ENSP00000500718.1:n.2897C>G | |
| ENST00000672515.1:c.2956C>G | ||
| ENST00000673551.1:c.*1105C>G | ENSP00000500672.1:n.*1105C>G | |
| ENST00000383829.6:c.2982C>G | ENSP00000373340.2:p.Tyr994Ter | |
| ENST00000424362.5:c.2961C>G | ENSP00000398863.1:p.Tyr987Ter | |
| ENST00000433861.6:c.2679C>G | ENSP00000402485.2:p.Tyr893Ter | |
| ENST00000457855.1:c.2964C>G | ENSP00000410210.1:p.Tyr988Ter | |
| ENST00000497565.1:n.26C>G | ||
| NM_001003694.1:c.2982C>G | NP_001003694.1:p.Tyr994Ter | |
| NM_004634.2:c.2964C>G | NP_004625.2:p.Tyr988Ter | |
| XM_005265449.1:c.2961C>G | XP_005265506.1:p.Tyr987Ter | |
| XM_005265450.1:c.2979C>G | XP_005265507.1:p.Tyr993Ter | |
| XM_005265451.1:c.2961C>G | XP_005265508.1:p.Tyr987Ter | |
| XM_005265452.1:c.2697C>G | XP_005265509.1:p.Tyr899Ter | |
| XM_005265453.1:c.2679C>G | XP_005265510.1:p.Tyr893Ter | |
| XM_011534101.1:c.2964C>G | XP_011532403.1:p.Tyr988Ter | |
| XM_011534102.1:c.2964C>G | XP_011532404.1:p.Tyr988Ter | |
| NM_001319049.1:c.2679C>G | NP_001305978.1:p.Tyr893Ter | |
| NM_001319050.1:c.2961C>G | NP_001305979.1:p.Tyr987Ter | |
| XM_024453741.1:c.2982C>G | XP_024309509.1:p.Tyr994Ter | |
| XM_024453742.1:c.2982C>G | XP_024309510.1:p.Tyr994Ter | |
| XM_024453743.1:c.2979C>G | XP_024309511.1:p.Tyr993Ter | |
| XM_024453744.1:c.2697C>G | XP_024309512.1:p.Tyr899Ter | |
| XR_001740257.1:n.3317C>G | ||
| XR_001740258.1:n.3571C>G | ||
| NM_001003694.2:c.2982C>G MANE Select | NP_001003694.1:p.Tyr994Ter | |
| NR_160918.1:n.3565C>G | ||
| NM_001319049.2:c.2679C>G | NP_001305978.1:p.Tyr893Ter | |
| NM_001319050.2:c.2961C>G | NP_001305979.1:p.Tyr987Ter | |
| NM_004634.3:c.2964C>G | NP_004625.2:p.Tyr988Ter |