Linked Data
ClinVar Variation Id:
473965
dbSNP Id:
rs80338777
gnomAD v2:
1-201047043-C-A
gnomAD v4:
1-201077915-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201077915C>A , CM000663.2:g.201077915C>A | GRCh38 |
| NC_000001.10:g.201047043C>A , CM000663.1:g.201047043C>A | GRCh37 |
| NC_000001.9:g.199313666C>A | NCBI36 |
| NG_009816.1:g.39652G>T | |
| NG_009816.2:g.39652G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000362061.4:c.1583G>T MANE Select | ENSP00000355192.3:p.Arg528Leu | |
| ENST00000679417.1:c.*746G>T | ENSP00000506706.1:n.*746G>T | |
| ENST00000680059.1:c.1583G>T | ENSP00000504944.1:p.Arg528Leu | |
| ENST00000681078.1:c.1583G>T | ENSP00000506645.1:p.Arg528Leu | |
| ENST00000681190.1:c.1583G>T | ENSP00000506428.1:p.Arg528Leu | |
| ENST00000681874.1:c.1583G>T | ENSP00000505162.1:p.Arg528Leu | |
| ENST00000362061.3:c.1583G>T | ENSP00000355192.3:p.Arg528Leu | |
| ENST00000367338.7:c.1583G>T | ENSP00000356307.3:p.Arg528Leu | |
| NM_000069.2:c.1583G>T | NP_000060.2:p.Arg528Leu | |
| XM_005245478.2:c.1583G>T | XP_005245535.1:p.Arg528Leu | |
| XM_005245478.3:c.1583G>T | XP_005245535.1:p.Arg528Leu | |
| NM_000069.3:c.1583G>T MANE Select | NP_000060.2:p.Arg528Leu |