Linked Data
dbSNP Id:
rs775457543
gnomAD v2:
10-63718275-G-A
gnomAD v3:
10-61958516-G-A
gnomAD v4:
10-61958516-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.61958516G>A , CM000672.2:g.61958516G>A | GRCh38 |
| NC_000010.10:g.63718275G>A , CM000672.1:g.63718275G>A | GRCh37 |
| NC_000010.9:g.63388281G>A | NCBI36 |
| NG_030027.1:g.62263G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279873.12:c.502+18108G>A MANE Select | ENSP00000279873.7:n.502+18108G>A | |
| ENST00000644638.1:c.502+18108G>A | ENSP00000494412.1:n.502+18108G>A | |
| ENST00000681100.1:c.502+18108G>A | ENSP00000506119.1:n.502+18108G>A | |
| ENST00000279873.11:c.502+18108G>A | ENSP00000279873.7:n.502+18108G>A | |
| NM_032199.2:c.502+18108G>A | NP_115575.1:n.502+18108G>A | |
| XM_011540262.1:c.502+18108G>A | XP_011538564.1:n.502+18108G>A | |
| XM_024448230.1:c.-66+18108G>A | XP_024303998.1:n.-66+18108G>A | |
| NM_032199.3:c.502+18108G>A MANE Select | NP_115575.1:n.502+18108G>A |