Linked Data
ClinVar Variation Id:
10932
dbSNP Id:
rs137854594
COSMIC:
COSM4885217
PubMed:
PMID:9856476
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37792023C>T , CM000685.2:g.37792023C>T | GRCh38 |
| NC_000023.10:g.37651276C>T , CM000685.1:g.37651276C>T | GRCh37 |
| NC_000023.9:g.37536216C>T | NCBI36 |
| NG_009065.1:g.17003C>T , LRG_53:g.17003C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696170.1:c.301C>T | ENSP00000512461.1:p.His101Tyr | |
| ENST00000696171.1:c.205C>T | ENSP00000512462.1:p.His69Tyr | |
| ENST00000696172.1:c.301C>T | ENSP00000512463.1:p.His101Tyr | |
| ENST00000378588.5:c.301C>T MANE Select | ENSP00000367851.4:p.His101Tyr | |
| ENST00000378588.4:c.301C>T | ENSP00000367851.4:p.His101Tyr | |
| ENST00000465127.1:c.171+366023C>T | ENSP00000417050.1:n.171+366023C>T | |
| NM_000397.3:c.301C>T , LRG_53t1:c.301C>T | NP_000388.2:p.His101Tyr | |
| XM_011543890.1:c.-6C>T | XP_011542192.1:n.-6C>T | |
| NM_000397.4:c.301C>T MANE Select | NP_000388.2:p.His101Tyr |