Linked Data
dbSNP Id:
rs1006714998
gnomAD v2:
2-21261120-T-C
gnomAD v3:
2-21038248-T-C
gnomAD v4:
2-21038248-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21038248T>C , CM000664.2:g.21038248T>C | GRCh38 |
| NC_000002.11:g.21261120T>C , CM000664.1:g.21261120T>C | GRCh37 |
| NC_000002.10:g.21114625T>C | NCBI36 |
| NG_011793.1:g.10826A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.384-993A>G | ENSP00000501110.2:n.384-993A>G | |
| ENST00000673882.2:c.384-993A>G | ENSP00000501253.2:n.384-993A>G | |
| ENST00000673739.1:c.252-993A>G | ENSP00000501110.1:n.252-993A>G | |
| ENST00000673882.1:c.252-993A>G | ENSP00000501253.1:n.252-993A>G | |
| ENST00000233242.5:c.384-137A>G MANE Select | ENSP00000233242.1:n.384-137A>G | |
| ENST00000399256.4:c.384-137A>G | ENSP00000382200.4:n.384-137A>G | |
| ENST00000616098.4:c.384-137A>G | ENSP00000477990.1:n.384-137A>G | |
| NM_000384.2:c.384-137A>G | NP_000375.2:n.384-137A>G | |
| XM_011532809.1:c.384-137A>G | XP_011531111.1:n.384-137A>G | |
| NM_000384.3:c.384-137A>G MANE Select | NP_000375.3:n.384-137A>G |