Linked Data
ClinVar Variation Id:
236479
ClinVar RCV Id:
RCV001854803
dbSNP Id:
rs878853371
gnomAD v4:
1-197434732-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197434732C>T , CM000663.2:g.197434732C>T | GRCh38 |
| NC_000001.10:g.197403862C>T , CM000663.1:g.197403862C>T | GRCh37 |
| NC_000001.9:g.195670485C>T | NCBI36 |
| NG_008483.1:g.171455C>T | |
| NG_008483.2:g.238271C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367400.8:c.2869C>T MANE Select | ENSP00000356370.3:p.Gln957Ter | |
| ENST00000638467.1:c.2869C>T | ENSP00000491102.1:p.Gln957Ter | |
| ENST00000681519.1:c.1750C>T | ENSP00000505267.1:p.Gln584Ter | |
| ENST00000367397.1:c.1012C>T | ENSP00000356367.1:p.Gln338Ter | |
| ENST00000367399.6:c.2533C>T | ENSP00000356369.2:p.Gln845Ter | |
| ENST00000367400.7:c.2869C>T | ENSP00000356370.3:p.Gln957Ter | |
| ENST00000484075.5:c.2869C>T | ENSP00000433932.1:p.Gln957Ter | |
| ENST00000535699.5:c.2797C>T | ENSP00000438786.1:p.Gln933Ter | |
| ENST00000538660.5:c.2129-868C>T | ENSP00000438091.1:n.2129-868C>T | |
| NM_001193640.1:c.2533C>T | NP_001180569.1:p.Gln845Ter | |
| NM_001257965.1:c.2797C>T | NP_001244894.1:p.Gln933Ter | |
| NM_001257966.1:c.2129-868C>T | NP_001244895.1:n.2129-868C>T | |
| NM_201253.2:c.2869C>T | NP_957705.1:p.Gln957Ter | |
| NR_047563.1:n.2870C>T | ||
| NR_047564.1:n.3078C>T | ||
| XM_011509365.1:c.2869C>T | XP_011507667.1:p.Gln957Ter | |
| XM_011509366.1:c.2869C>T | XP_011507668.1:p.Gln957Ter | |
| XM_011509367.1:c.2869C>T | XP_011507669.1:p.Gln957Ter | |
| XM_011509368.1:c.2287C>T | XP_011507670.1:p.Gln763Ter | |
| XM_011509369.1:c.1312C>T | XP_011507671.1:p.Gln438Ter | |
| XM_011509365.2:c.2869C>T | XP_011507667.1:p.Gln957Ter | |
| XM_011509369.2:c.1312C>T | XP_011507671.1:p.Gln438Ter | |
| XM_017000851.1:c.2026C>T | XP_016856340.1:p.Gln676Ter | |
| XM_017000852.1:c.3004C>T | XP_016856341.1:p.Gln1002Ter | |
| NM_201253.3:c.2869C>T MANE Select | NP_957705.1:p.Gln957Ter | |
| NM_001193640.2:c.2533C>T | NP_001180569.1:p.Gln845Ter | |
| NM_001257965.2:c.2797C>T | NP_001244894.1:p.Gln933Ter | |
| NR_047563.2:n.2822C>T | ||
| NR_047564.2:n.3030C>T | ||
| NM_001257966.2:c.2129-868C>T | NP_001244895.1:n.2129-868C>T |