Linked Data
dbSNP Id:
rs10740055
gnomAD v2:
10-63718479-C-A
gnomAD v3:
10-61958720-C-A
gnomAD v4:
10-61958720-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.61958720C>A , CM000672.2:g.61958720C>A | GRCh38 |
| NC_000010.10:g.63718479C>A , CM000672.1:g.63718479C>A | GRCh37 |
| NC_000010.9:g.63388485C>A | NCBI36 |
| NG_030027.1:g.62467C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000279873.12:c.502+18312C>A MANE Select | ENSP00000279873.7:n.502+18312C>A | |
| ENST00000644638.1:c.502+18312C>A | ENSP00000494412.1:n.502+18312C>A | |
| ENST00000681100.1:c.502+18312C>A | ENSP00000506119.1:n.502+18312C>A | |
| ENST00000279873.11:c.502+18312C>A | ENSP00000279873.7:n.502+18312C>A | |
| NM_032199.2:c.502+18312C>A | NP_115575.1:n.502+18312C>A | |
| XM_011540262.1:c.502+18312C>A | XP_011538564.1:n.502+18312C>A | |
| XM_024448230.1:c.-66+18312C>A | XP_024303998.1:n.-66+18312C>A | |
| NM_032199.3:c.502+18312C>A MANE Select | NP_115575.1:n.502+18312C>A |