Linked Data
dbSNP Id:
rs752980192
ExAC:
2:21234277 C / A
gnomAD v2:
2-21234277-C-A
gnomAD v3:
2-21011405-C-A
gnomAD v4:
2-21011405-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21011405C>A , CM000664.2:g.21011405C>A | GRCh38 |
| NC_000002.11:g.21234277C>A , CM000664.1:g.21234277C>A | GRCh37 |
| NC_000002.10:g.21087782C>A | NCBI36 |
| NG_011793.1:g.37669G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*4769G>T | ENSP00000501110.2:n.*4769G>T | |
| ENST00000673739.1:c.5177G>T | ENSP00000501110.1:n.5177G>T | |
| ENST00000233242.5:c.5463G>T MANE Select | ENSP00000233242.1:p.Leu1821= | |
| ENST00000616098.4:c.5463G>T | ENSP00000477990.1:p.Leu1821= | |
| NM_000384.2:c.5463G>T | NP_000375.2:p.Leu1821= | |
| XM_011532809.1:c.5463G>T | XP_011531111.1:p.Leu1821= | |
| NM_000384.3:c.5463G>T MANE Select | NP_000375.3:p.Leu1821= |