Linked Data
ClinVar Variation Id:
2503283
ClinVar RCV Id:
RCV003230117
dbSNP Id:
rs888549047
gnomAD v4:
12-115991685-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115991685C>A , CM000674.2:g.115991685C>A | GRCh38 |
| NC_000012.11:g.116429490C>A , CM000674.1:g.116429490C>A | GRCh37 |
| NC_000012.10:g.114913873C>A | NCBI36 |
| NG_023366.1:g.290502G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.3269G>T MANE Select | ENSP00000281928.3:p.Arg1090Leu | |
| ENST00000548743.2:c.3239G>T | ENSP00000448553.2:p.Arg1080Leu | |
| ENST00000549786.2:c.2697G>T | ||
| ENST00000648379.1:n.1637G>T | ||
| ENST00000648737.1:n.3033G>T | ||
| ENST00000648825.1:n.9G>T | ||
| ENST00000648916.1:n.1280G>T | ||
| ENST00000649607.1:c.1453G>T | ||
| ENST00000650226.1:c.3269G>T | ENSP00000496981.1:p.Arg1090Leu | |
| ENST00000281928.7:c.3269G>T | ENSP00000281928.3:p.Arg1090Leu | |
| NM_015335.4:c.3269G>T | NP_056150.1:p.Arg1090Leu | |
| XM_011538080.1:c.3269G>T | XP_011536382.1:p.Arg1090Leu | |
| XM_011538081.1:c.3266G>T | XP_011536383.1:p.Arg1089Leu | |
| XM_011538082.1:c.3239G>T | XP_011536384.1:p.Arg1080Leu | |
| XM_011538080.2:c.3269G>T | XP_011536382.1:p.Arg1090Leu | |
| XM_011538081.2:c.3266G>T | XP_011536383.1:p.Arg1089Leu | |
| XM_011538082.2:c.3239G>T | XP_011536384.1:p.Arg1080Leu | |
| XM_017019090.1:c.3266G>T | XP_016874579.1:p.Arg1089Leu | |
| NM_015335.5:c.3269G>T MANE Select | NP_056150.1:p.Arg1090Leu |