Linked Data
ClinVar Variation Id:
18265
ClinVar RCV Id:
RCV000019927
dbSNP Id:
rs137853203
gnomAD v2:
9-130630625-T-C
gnomAD v4:
9-127868346-T-C
PubMed:
PMID:9432020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127868346T>C , CM000671.2:g.127868346T>C | GRCh38 |
| NC_000009.11:g.130630625T>C , CM000671.1:g.130630625T>C | GRCh37 |
| NC_000009.10:g.129670446T>C | NCBI36 |
| NG_011792.1:g.14398A>G | |
| NG_011792.2:g.14398A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000476274.7:n.991A>G | ||
| ENST00000643029.1:c.*2166A>G | ENSP00000496586.1:n.*2166A>G | |
| ENST00000643338.1:c.*2055A>G | ENSP00000495890.1:n.*2055A>G | |
| ENST00000644144.2:c.491A>G MANE Select | ENSP00000494600.1:p.Tyr164Cys | |
| ENST00000645007.1:c.*2415A>G | ENSP00000494773.1:n.*2415A>G | |
| ENST00000646171.1:c.*524A>G | ENSP00000495484.1:n.*524A>G | |
| ENST00000223836.10:c.539A>G | ENSP00000223836.10:p.Tyr180Cys | |
| ENST00000373156.5:c.491A>G | ENSP00000362249.1:p.Tyr164Cys | |
| ENST00000373176.5:c.491A>G | ENSP00000362271.1:p.Tyr164Cys | |
| ENST00000413016.5:c.313A>G | ||
| ENST00000550143.5:c.271A>G | ENSP00000449130.1:n.271A>G | |
| NM_000476.2:c.491A>G | NP_000467.1:p.Tyr164Cys | |
| XM_005251786.2:c.539A>G | XP_005251843.1:p.Tyr180Cys | |
| XM_011518348.1:c.491A>G | XP_011516650.1:p.Tyr164Cys | |
| XM_011518349.1:c.311A>G | XP_011516651.1:p.Tyr104Cys | |
| NM_001318121.1:c.491A>G | NP_001305050.1:p.Tyr164Cys | |
| NM_001318122.1:c.539A>G | NP_001305051.1:p.Tyr180Cys | |
| XM_017014428.1:c.491A>G | XP_016869917.1:p.Tyr164Cys | |
| XM_024447439.1:c.470A>G | XP_024303207.1:p.Tyr157Cys | |
| XM_024447440.1:c.311A>G | XP_024303208.1:p.Tyr104Cys | |
| NM_001318122.2:c.539A>G | NP_001305051.1:p.Tyr180Cys | |
| NM_000476.3:c.491A>G MANE Select | NP_000467.1:p.Tyr164Cys | |
| NR_174625.1:n.3810A>G | ||
| NR_174626.1:n.3653A>G | ||
| NR_174627.1:n.3690A>G | ||
| NR_174628.1:n.3068A>G | ||
| NR_174629.1:n.3013A>G | ||
| NR_174630.1:n.3049A>G | ||
| NR_174631.1:n.2994A>G | ||
| NR_174632.1:n.3083A>G |