Linked Data
dbSNP Id:
rs760674353
ExAC:
6:31603020 C / G
gnomAD v2:
6-31603020-C-G
gnomAD v4:
6-31635243-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31635243C>G , CM000668.2:g.31635243C>G | GRCh38 |
| NC_000006.11:g.31603020C>G , CM000668.1:g.31603020C>G | GRCh37 |
| NC_000006.10:g.31710999C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376033.3:c.5272C>G MANE Select | ENSP00000365201.2:p.Pro1758Ala | |
| ENST00000376007.8:c.5272C>G | ENSP00000365175.4:p.Pro1758Ala | |
| ENST00000376033.2:c.5272C>G | ENSP00000365201.2:p.Pro1758Ala | |
| ENST00000469501.1:n.2C>G | ||
| ENST00000484787.1:n.683C>G | ||
| NM_004638.3:c.5272C>G | NP_004629.3:p.Pro1758Ala | |
| NM_080686.2:c.5272C>G | NP_542417.2:p.Pro1758Ala | |
| XM_011514890.1:c.5272C>G | XP_011513192.1:p.Pro1758Ala | |
| XM_017011274.1:c.5272C>G | XP_016866763.1:p.Pro1758Ala | |
| NM_004638.4:c.5272C>G MANE Select | NP_004629.3:p.Pro1758Ala | |
| NM_080686.3:c.5272C>G | NP_542417.2:p.Pro1758Ala |