Linked Data
dbSNP Id:
rs748674756
ExAC:
17:40839772 C / T
gnomAD v2:
17-40839772-C-T
gnomAD v3:
17-42687754-C-T
gnomAD v4:
17-42687754-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42687754C>T , CM000679.2:g.42687754C>T | GRCh38 |
| NC_000017.10:g.40839772C>T , CM000679.1:g.40839772C>T | GRCh37 |
| NC_000017.9:g.38093298C>T | NCBI36 |
| NG_042091.1:g.10141C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264638.9:c.1079C>T MANE Select | ENSP00000264638.3:p.Pro360Leu | |
| ENST00000264638.8:c.1079C>T | ENSP00000264638.3:p.Pro360Leu | |
| ENST00000586801.1:n.494C>T | ||
| ENST00000591662.1:c.1079C>T | ENSP00000466571.1:p.Pro360Leu | |
| NM_003632.2:c.1079C>T | NP_003623.1:p.Pro360Leu | |
| XM_005257748.3:c.851C>T | XP_005257805.1:p.Pro284Leu | |
| XM_005257748.4:c.851C>T | XP_005257805.1:p.Pro284Leu | |
| XM_017025238.1:c.1079C>T | XP_016880727.1:p.Pro360Leu | |
| XM_024451011.1:c.1079C>T | XP_024306779.1:p.Pro360Leu | |
| NM_003632.3:c.1079C>T MANE Select | NP_003623.1:p.Pro360Leu |