Linked Data
dbSNP Id:
rs77935220
ExAC:
6:31238886 A / G
gnomAD v2:
6-31238886-A-G
gnomAD v3:
6-31271109-A-G
gnomAD v4:
6-31271109-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271109A>G , CM000668.2:g.31271109A>G | GRCh38 |
| NC_000006.11:g.31238886A>G , CM000668.1:g.31238886A>G | GRCh37 |
| NC_000006.10:g.31346865A>G | NCBI36 |
| NG_029422.2:g.6023T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.583T>C MANE Select | ENSP00000365402.5:p.Tyr195His | |
| ENST00000376228.9:c.583T>C | ENSP00000365402.5:p.Tyr195His | |
| ENST00000376237.8:c.*170T>C | ENSP00000365412.4:n.*170T>C | |
| ENST00000383329.7:c.583T>C | ENSP00000372819.3:p.Tyr195His | |
| ENST00000415537.1:c.581T>C | ||
| ENST00000484378.1:n.852T>C | ||
| ENST00000487245.5:n.942T>C | ||
| ENST00000495835.1:n.772T>C | ||
| NM_002117.5:c.583T>C | NP_002108.4:p.Tyr195His | |
| NM_002117.6:c.583T>C MANE Select | NP_002108.4:p.Tyr195His |