Linked Data
ClinVar Variation Id:
289997
dbSNP Id:
rs144436610
ExAC:
1:197391061 C / G
gnomAD v2:
1-197391061-C-G
gnomAD v3:
1-197421931-C-G
gnomAD v4:
1-197421931-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197421931C>G , CM000663.2:g.197421931C>G | GRCh38 |
| NC_000001.10:g.197391061C>G , CM000663.1:g.197391061C>G | GRCh37 |
| NC_000001.9:g.195657684C>G | NCBI36 |
| NG_008483.1:g.158654C>G | |
| NG_008483.2:g.225470C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2103C>G MANE Select | ENSP00000356370.3:p.Pro701= | |
| ENST00000638467.1:c.2103C>G | ENSP00000491102.1:p.Pro701= | |
| ENST00000681519.1:c.984C>G | ENSP00000505267.1:p.Pro328= | |
| ENST00000367397.1:c.246C>G | ENSP00000356367.1:p.Pro82= | |
| ENST00000367399.6:c.1767C>G | ENSP00000356369.2:p.Pro589= | |
| ENST00000367400.7:c.2103C>G | ENSP00000356370.3:p.Pro701= | |
| ENST00000484075.5:c.2103C>G | ENSP00000433932.1:p.Pro701= | |
| ENST00000535699.5:c.1896C>G | ENSP00000438786.1:p.Pro632= | |
| ENST00000538660.5:c.2103C>G | ENSP00000438091.1:p.Pro701= | |
| NM_001193640.1:c.1767C>G | NP_001180569.1:p.Pro589= | |
| NM_001257965.1:c.1896C>G | NP_001244894.1:p.Pro632= | |
| NM_001257966.1:c.2103C>G | NP_001244895.1:p.Pro701= | |
| NM_201253.2:c.2103C>G | NP_957705.1:p.Pro701= | |
| NR_047563.1:n.2104C>G | ||
| NR_047564.1:n.2312C>G | ||
| XM_011509365.1:c.2103C>G | XP_011507667.1:p.Pro701= | |
| XM_011509366.1:c.2103C>G | XP_011507668.1:p.Pro701= | |
| XM_011509367.1:c.2103C>G | XP_011507669.1:p.Pro701= | |
| XM_011509368.1:c.1521C>G | XP_011507670.1:p.Pro507= | |
| XM_011509369.1:c.546C>G | XP_011507671.1:p.Pro182= | |
| XM_011509365.2:c.2103C>G | XP_011507667.1:p.Pro701= | |
| XM_011509369.2:c.546C>G | XP_011507671.1:p.Pro182= | |
| XM_017000851.1:c.1260C>G | XP_016856340.1:p.Pro420= | |
| XM_017000852.1:c.2103C>G | XP_016856341.1:p.Pro701= | |
| NM_201253.3:c.2103C>G MANE Select | NP_957705.1:p.Pro701= | |
| NM_001193640.2:c.1767C>G | NP_001180569.1:p.Pro589= | |
| NM_001257965.2:c.1896C>G | NP_001244894.1:p.Pro632= | |
| NR_047563.2:n.2056C>G | ||
| NR_047564.2:n.2264C>G | ||
| NM_001257966.2:c.2103C>G | NP_001244895.1:p.Pro701= |