Linked Data
dbSNP Id:
rs1050343
ExAC:
6:31238232 G / A
gnomAD v2:
6-31238232-G-A
gnomAD v3:
6-31270455-G-A
gnomAD v4:
6-31270455-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270455G>A , CM000668.2:g.31270455G>A | GRCh38 |
| NC_000006.11:g.31238232G>A , CM000668.1:g.31238232G>A | GRCh37 |
| NC_000006.10:g.31346211G>A | NCBI36 |
| NG_029422.2:g.6677C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.650C>T MANE Select | ENSP00000365402.5:p.Pro217Leu | |
| ENST00000376228.9:c.650C>T | ENSP00000365402.5:p.Pro217Leu | |
| ENST00000376237.8:c.*237C>T | ENSP00000365412.4:n.*237C>T | |
| ENST00000383329.7:c.650C>T | ENSP00000372819.3:p.Pro217Leu | |
| ENST00000415537.1:c.648C>T | ||
| ENST00000487245.5:n.1009C>T | ||
| ENST00000495835.1:n.839C>T | ||
| NM_002117.5:c.650C>T | NP_002108.4:p.Pro217Leu | |
| NM_002117.6:c.650C>T MANE Select | NP_002108.4:p.Pro217Leu |