Linked Data
ClinVar Variation Id:
166957
ClinVar RCV Id:
RCV000153109
RCV000272435
RCV000327584
RCV000377522
RCV000755993
RCV001085035
RCV001275648
RCV001532866
dbSNP Id:
rs142224492
ExAC:
1:197390491 C / T
gnomAD v2:
1-197390491-C-T
gnomAD v3:
1-197421361-C-T
gnomAD v4:
1-197421361-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197421361C>T , CM000663.2:g.197421361C>T | GRCh38 |
| NC_000001.10:g.197390491C>T , CM000663.1:g.197390491C>T | GRCh37 |
| NC_000001.9:g.195657114C>T | NCBI36 |
| NG_008483.1:g.158084C>T | |
| NG_008483.2:g.224900C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.1533C>T MANE Select | ENSP00000356370.3:p.Ala511= | |
| ENST00000638467.1:c.1533C>T | ENSP00000491102.1:p.Ala511= | |
| ENST00000681519.1:c.414C>T | ENSP00000505267.1:p.Ala138= | |
| ENST00000367397.1:c.-325C>T | ENSP00000356367.1:n.-325C>T | |
| ENST00000367399.6:c.1197C>T | ENSP00000356369.2:p.Ala399= | |
| ENST00000367400.7:c.1533C>T | ENSP00000356370.3:p.Ala511= | |
| ENST00000476483.1:n.493C>T | ||
| ENST00000484075.5:c.1533C>T | ENSP00000433932.1:p.Ala511= | |
| ENST00000535699.5:c.1326C>T | ENSP00000438786.1:p.Ala442= | |
| ENST00000538660.5:c.1533C>T | ENSP00000438091.1:p.Ala511= | |
| NM_001193640.1:c.1197C>T | NP_001180569.1:p.Ala399= | |
| NM_001257965.1:c.1326C>T | NP_001244894.1:p.Ala442= | |
| NM_001257966.1:c.1533C>T | NP_001244895.1:p.Ala511= | |
| NM_201253.2:c.1533C>T | NP_957705.1:p.Ala511= | |
| NR_047563.1:n.1742C>T | ||
| NR_047564.1:n.1742C>T | ||
| XM_011509365.1:c.1533C>T | XP_011507667.1:p.Ala511= | |
| XM_011509366.1:c.1533C>T | XP_011507668.1:p.Ala511= | |
| XM_011509367.1:c.1533C>T | XP_011507669.1:p.Ala511= | |
| XM_011509368.1:c.951C>T | XP_011507670.1:p.Ala317= | |
| XM_011509369.1:c.-25C>T | XP_011507671.1:n.-25C>T | |
| XM_011509365.2:c.1533C>T | XP_011507667.1:p.Ala511= | |
| XM_011509369.2:c.-25C>T | XP_011507671.1:n.-25C>T | |
| XM_017000851.1:c.690C>T | XP_016856340.1:p.Ala230= | |
| XM_017000852.1:c.1533C>T | XP_016856341.1:p.Ala511= | |
| NM_201253.3:c.1533C>T MANE Select | NP_957705.1:p.Ala511= | |
| NM_001193640.2:c.1197C>T | NP_001180569.1:p.Ala399= | |
| NM_001257965.2:c.1326C>T | NP_001244894.1:p.Ala442= | |
| NR_047563.2:n.1694C>T | ||
| NR_047564.2:n.1694C>T | ||
| NM_001257966.2:c.1533C>T | NP_001244895.1:p.Ala511= |