Linked Data
ClinVar Variation Id:
2188535
ClinVar RCV Id:
RCV002636563
dbSNP Id:
rs751517092
gnomAD v2:
12-32994095-T-G
gnomAD v4:
12-32841161-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32841161T>G , CM000674.2:g.32841161T>G | GRCh38 |
| NC_000012.11:g.32994095T>G , CM000674.1:g.32994095T>G | GRCh37 |
| NC_000012.10:g.32885362T>G | NCBI36 |
| NG_009000.1:g.60686A>C , LRG_398:g.60686A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700559.2:c.1423A>C | ENSP00000515065.2:p.Met475Leu | |
| ENST00000700563.2:c.1423A>C | ENSP00000515066.2:p.Met475Leu | |
| ENST00000700559.1:c.638A>C | ||
| ENST00000700560.1:n.638A>C | ||
| ENST00000700561.1:n.764A>C | ||
| ENST00000700563.1:c.1377A>C | ||
| ENST00000700564.1:n.1427A>C | ||
| ENST00000700565.1:n.1276A>C | ||
| ENST00000070846.11:c.1555A>C | ENSP00000070846.6:p.Met519Leu | |
| ENST00000340811.9:c.1423A>C MANE Select | ENSP00000342800.5:p.Met475Leu | |
| ENST00000070846.10:c.1555A>C | ENSP00000070846.6:p.Met519Leu | |
| ENST00000340811.8:c.1423A>C | ENSP00000342800.4:p.Met475Leu | |
| ENST00000613243.1:c.1555A>C | ENSP00000478295.1:p.Met519Leu | |
| NM_001005242.2:c.1423A>C | NP_001005242.2:p.Met475Leu | |
| NM_004572.3:c.1555A>C , LRG_398t1:c.1555A>C | NP_004563.2:p.Met519Leu | |
| NM_001005242.3:c.1423A>C MANE Select | NP_001005242.2:p.Met475Leu | |
| NM_004572.4:c.1555A>C | NP_004563.2:p.Met519Leu |