Linked Data
ClinVar Variation Id:
5736
ClinVar RCV Id:
RCV000006090
RCV000578757
RCV000691427
RCV000787578
RCV000787826
RCV001275651
RCV001250606
RCV002504753
RCV003450616
dbSNP Id:
rs137853137
ExAC:
1:197396856 A / T
gnomAD v2:
1-197396856-A-T
gnomAD v3:
1-197427726-A-T
gnomAD v4:
1-197427726-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197427726A>T , CM000663.2:g.197427726A>T | GRCh38 |
| NC_000001.10:g.197396856A>T , CM000663.1:g.197396856A>T | GRCh37 |
| NC_000001.9:g.195663479A>T | NCBI36 |
| NG_008483.1:g.164449A>T | |
| NG_008483.2:g.231265A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2401A>T MANE Select | ENSP00000356370.3:p.Lys801Ter | |
| ENST00000638467.1:c.2401A>T | ENSP00000491102.1:p.Lys801Ter | |
| ENST00000681519.1:c.1282A>T | ENSP00000505267.1:p.Lys428Ter | |
| ENST00000367397.1:c.544A>T | ENSP00000356367.1:p.Lys182Ter | |
| ENST00000367399.6:c.2065A>T | ENSP00000356369.2:p.Lys689Ter | |
| ENST00000367400.7:c.2401A>T | ENSP00000356370.3:p.Lys801Ter | |
| ENST00000480086.2:n.302A>T | ||
| ENST00000484075.5:c.2401A>T | ENSP00000433932.1:p.Lys801Ter | |
| ENST00000535699.5:c.2194A>T | ENSP00000438786.1:p.Lys732Ter | |
| ENST00000538660.5:c.2128+5770A>T | ENSP00000438091.1:n.2128+5770A>T | |
| NM_001193640.1:c.2065A>T | NP_001180569.1:p.Lys689Ter | |
| NM_001257965.1:c.2194A>T | NP_001244894.1:p.Lys732Ter | |
| NM_001257966.1:c.2128+5770A>T | NP_001244895.1:n.2128+5770A>T | |
| NM_201253.2:c.2401A>T | NP_957705.1:p.Lys801Ter | |
| NR_047563.1:n.2402A>T | ||
| NR_047564.1:n.2610A>T | ||
| XM_011509365.1:c.2401A>T | XP_011507667.1:p.Lys801Ter | |
| XM_011509366.1:c.2401A>T | XP_011507668.1:p.Lys801Ter | |
| XM_011509367.1:c.2401A>T | XP_011507669.1:p.Lys801Ter | |
| XM_011509368.1:c.1819A>T | XP_011507670.1:p.Lys607Ter | |
| XM_011509369.1:c.844A>T | XP_011507671.1:p.Lys282Ter | |
| XM_011509365.2:c.2401A>T | XP_011507667.1:p.Lys801Ter | |
| XM_011509369.2:c.844A>T | XP_011507671.1:p.Lys282Ter | |
| XM_017000851.1:c.1558A>T | XP_016856340.1:p.Lys520Ter | |
| XM_017000852.1:c.2401A>T | XP_016856341.1:p.Lys801Ter | |
| NM_201253.3:c.2401A>T MANE Select | NP_957705.1:p.Lys801Ter | |
| NM_001193640.2:c.2065A>T | NP_001180569.1:p.Lys689Ter | |
| NM_001257965.2:c.2194A>T | NP_001244894.1:p.Lys732Ter | |
| NR_047563.2:n.2354A>T | ||
| NR_047564.2:n.2562A>T | ||
| NM_001257966.2:c.2128+5770A>T | NP_001244895.1:n.2128+5770A>T |