Linked Data
dbSNP Id:
rs10975519
ExAC:
9:6253571 C / T
gnomAD v2:
9-6253571-C-T
gnomAD v3:
9-6253571-C-T
gnomAD v4:
9-6253571-C-T
COSMIC:
COSM3763959
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6253571C>T , CM000671.2:g.6253571C>T | GRCh38 |
| NC_000009.11:g.6253571C>T , CM000671.1:g.6253571C>T | GRCh37 |
| NC_000009.10:g.6243571C>T | NCBI36 |
| NG_047209.1:g.43423C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682010.1:c.489C>T MANE Select | ENSP00000507310.1:p.Tyr163= | |
| ENST00000381434.7:c.489C>T | ENSP00000370842.3:p.Tyr163= | |
| ENST00000417746.6:c.111C>T | ENSP00000394039.2:p.Tyr37= | |
| ENST00000456383.3:c.363C>T | ENSP00000414238.2:p.Tyr121= | |
| ENST00000611532.4:c.363C>T | ENSP00000478858.1:p.Tyr121= | |
| NM_001199640.1:c.363C>T | NP_001186569.1:p.Tyr121= | |
| NM_001199641.1:c.111C>T | NP_001186570.1:p.Tyr37= | |
| NM_001314044.1:c.489C>T | NP_001300973.1:p.Tyr163= | |
| NM_001314045.1:c.489C>T | NP_001300974.1:p.Tyr163= | |
| NM_001314046.1:c.471C>T | NP_001300975.1:p.Tyr157= | |
| NM_001314047.1:c.471C>T | NP_001300976.1:p.Tyr157= | |
| NM_001314048.1:c.363C>T | NP_001300977.1:p.Tyr121= | |
| NM_033439.3:c.489C>T | NP_254274.1:p.Tyr163= | |
| XM_011518061.1:c.366C>T | XP_011516363.1:p.Tyr122= | |
| NM_001353802.1:c.366C>T | NP_001340731.1:p.Tyr122= | |
| XM_017015285.1:c.471C>T | XP_016870774.1:p.Tyr157= | |
| XR_001746614.1:n.153-25276G>A | ||
| NM_001199640.2:c.363C>T | NP_001186569.1:p.Tyr121= | |
| NM_001314044.2:c.489C>T | NP_001300973.1:p.Tyr163= | |
| NM_001314045.2:c.489C>T | NP_001300974.1:p.Tyr163= | |
| NM_001314046.2:c.471C>T | NP_001300975.1:p.Tyr157= | |
| NM_001314047.2:c.471C>T | NP_001300976.1:p.Tyr157= | |
| NM_001314048.2:c.363C>T | NP_001300977.1:p.Tyr121= | |
| NM_001353802.2:c.366C>T | NP_001340731.1:p.Tyr122= | |
| NM_033439.4:c.489C>T MANE Select | NP_254274.1:p.Tyr163= | |
| NM_001199641.2:c.111C>T | NP_001186570.1:p.Tyr37= |