Linked Data
dbSNP Id:
rs1410213756
gnomAD v2:
10-96534881-G-T
gnomAD v3:
10-94775124-G-T
gnomAD v4:
10-94775124-G-T
COSMIC:
COSM6067166
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775124G>T , CM000672.2:g.94775124G>T | GRCh38 |
| NC_000010.10:g.96534881G>T , CM000672.1:g.96534881G>T | GRCh37 |
| NC_000010.9:g.96524871G>T | NCBI36 |
| NG_008384.2:g.17419G>T | |
| NG_008384.3:g.17444G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.235G>T MANE Select | ENSP00000360372.3:p.Gly79Ter | |
| ENST00000645461.1:n.1288G>T | ||
| ENST00000371321.7:c.235G>T | ENSP00000360372.3:p.Gly79Ter | |
| ENST00000464755.1:c.998G>T | ENSP00000483243.1:p.Trp333Leu | |
| ENST00000480405.2:c.235G>T | ENSP00000483847.1:p.Gly79Ter | |
| NM_000769.2:c.235G>T | NP_000760.1:p.Gly79Ter | |
| NM_000769.4:c.235G>T MANE Select | NP_000760.1:p.Gly79Ter |