Linked Data
dbSNP Id:
rs2211122
gnomAD v2:
X-50202750-T-C
gnomAD v3:
X-50459752-T-C
gnomAD v4:
X-50459752-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50459752T>C , CM000685.2:g.50459752T>C | GRCh38 |
| NC_000023.10:g.50202750T>C , CM000685.1:g.50202750T>C | GRCh37 |
| NC_000023.9:g.50219490T>C | NCBI36 |
| NG_033143.2:g.15971A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000611977.2:c.645+10282A>G MANE Select | ENSP00000477515.1:n.645+10282A>G | |
| ENST00000611977.1:c.645+10282A>G | ENSP00000477515.1:n.645+10282A>G | |
| NM_001013742.3:c.645+10282A>G | NP_001013764.1:n.645+10282A>G | |
| XM_017029268.2:c.645+10282A>G | XP_016884757.1:n.645+10282A>G | |
| NM_001013742.4:c.645+10282A>G MANE Select | NP_001013764.1:n.645+10282A>G |