Linked Data
dbSNP Id:
rs10199768
gnomAD v2:
2-21244000-G-T
gnomAD v3:
2-21021128-G-T
gnomAD v4:
2-21021128-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21021128G>T , CM000664.2:g.21021128G>T | GRCh38 |
| NC_000002.11:g.21244000G>T , CM000664.1:g.21244000G>T | GRCh37 |
| NC_000002.10:g.21097505G>T | NCBI36 |
| NG_011793.1:g.27946C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673739.2:c.*2123-1223C>A | ENSP00000501110.2:n.*2123-1223C>A | |
| ENST00000673882.2:c.*2123-1223C>A | ENSP00000501253.2:n.*2123-1223C>A | |
| ENST00000673739.1:c.2531-1223C>A | ENSP00000501110.1:n.2531-1223C>A | |
| ENST00000673882.1:c.2531-1223C>A | ENSP00000501253.1:n.2531-1223C>A | |
| ENST00000233242.5:c.2817-1223C>A MANE Select | ENSP00000233242.1:n.2817-1223C>A | |
| ENST00000616098.4:c.2817-1223C>A | ENSP00000477990.1:n.2817-1223C>A | |
| NM_000384.2:c.2817-1223C>A | NP_000375.2:n.2817-1223C>A | |
| XM_011532809.1:c.2817-1223C>A | XP_011531111.1:n.2817-1223C>A | |
| NM_000384.3:c.2817-1223C>A MANE Select | NP_000375.3:n.2817-1223C>A |