Linked Data
dbSNP Id:
rs766149422
ExAC:
2:21260976 G / C
gnomAD v2:
2-21260976-G-C
gnomAD v3:
2-21038104-G-C
gnomAD v4:
2-21038104-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21038104G>C , CM000664.2:g.21038104G>C | GRCh38 |
| NC_000002.11:g.21260976G>C , CM000664.1:g.21260976G>C | GRCh37 |
| NC_000002.10:g.21114481G>C | NCBI36 |
| NG_011793.1:g.10970C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.384-849C>G | ENSP00000501110.2:n.384-849C>G | |
| ENST00000673882.2:c.384-849C>G | ENSP00000501253.2:n.384-849C>G | |
| ENST00000673739.1:c.252-849C>G | ENSP00000501110.1:n.252-849C>G | |
| ENST00000673882.1:c.252-849C>G | ENSP00000501253.1:n.252-849C>G | |
| ENST00000233242.5:c.391C>G MANE Select | ENSP00000233242.1:p.Leu131Val | |
| ENST00000399256.4:c.391C>G | ENSP00000382200.4:p.Leu131Val | |
| ENST00000616098.4:c.391C>G | ENSP00000477990.1:p.Leu131Val | |
| NM_000384.2:c.391C>G | NP_000375.2:p.Leu131Val | |
| XM_011532809.1:c.391C>G | XP_011531111.1:p.Leu131Val | |
| NM_000384.3:c.391C>G MANE Select | NP_000375.3:p.Leu131Val |