Linked Data
ClinVar Variation Id:
1158376
ClinVar RCV Id:
RCV001501761
dbSNP Id:
rs765722225
ExAC:
1:197446859 G / A
gnomAD v2:
1-197446859-G-A
gnomAD v3:
1-197477729-G-A
gnomAD v4:
1-197477729-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197477729G>A , CM000663.2:g.197477729G>A | GRCh38 |
| NC_000001.10:g.197446859G>A , CM000663.1:g.197446859G>A | GRCh37 |
| NC_000001.9:g.195713482G>A | NCBI36 |
| NG_008483.1:g.214452G>A | |
| NG_008483.2:g.281268G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.4071G>A MANE Select | ENSP00000356370.3:p.Leu1357= | |
| ENST00000367399.6:c.3735G>A | ENSP00000356369.2:p.Leu1245= | |
| ENST00000367400.7:c.4071G>A | ENSP00000356370.3:p.Leu1357= | |
| ENST00000448952.1:c.305G>A | ENSP00000395407.1:n.305G>A | |
| ENST00000484075.5:c.*182G>A | ENSP00000433932.1:n.*182G>A | |
| ENST00000535699.5:c.3999G>A | ENSP00000438786.1:p.Leu1333= | |
| ENST00000538660.5:c.2463G>A | ENSP00000438091.1:p.Leu821= | |
| NM_001193640.1:c.3735G>A | NP_001180569.1:p.Leu1245= | |
| NM_001257965.1:c.3999G>A | NP_001244894.1:p.Leu1333= | |
| NM_001257966.1:c.2463G>A | NP_001244895.1:p.Leu821= | |
| NM_201253.2:c.4071G>A | NP_957705.1:p.Leu1357= | |
| NR_047563.1:n.4072G>A | ||
| NR_047564.1:n.4522G>A | ||
| XM_011509366.1:c.*176G>A | XP_011507668.1:n.*176G>A | |
| XM_011509367.1:c.*50G>A | XP_011507669.1:n.*50G>A | |
| XM_011509368.1:c.3489G>A | XP_011507670.1:p.Leu1163= | |
| XM_011509369.1:c.2514G>A | XP_011507671.1:p.Leu838= | |
| XM_011509369.2:c.2514G>A | XP_011507671.1:p.Leu838= | |
| XM_017000851.1:c.3228G>A | XP_016856340.1:p.Leu1076= | |
| XM_017000852.1:c.4206G>A | XP_016856341.1:p.Leu1402= | |
| NM_201253.3:c.4071G>A MANE Select | NP_957705.1:p.Leu1357= | |
| NM_001193640.2:c.3735G>A | NP_001180569.1:p.Leu1245= | |
| NM_001257965.2:c.3999G>A | NP_001244894.1:p.Leu1333= | |
| NR_047563.2:n.4024G>A | ||
| NR_047564.2:n.4474G>A | ||
| NM_001257966.2:c.2463G>A | NP_001244895.1:p.Leu821= |