Linked Data
dbSNP Id:
rs553150888
gnomAD v2:
10-96734381-G-A
gnomAD v3:
10-94974624-G-A
gnomAD v4:
10-94974624-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94974624G>A , CM000672.2:g.94974624G>A | GRCh38 |
| NC_000010.10:g.96734381G>A , CM000672.1:g.96734381G>A | GRCh37 |
| NC_000010.9:g.96724371G>A | NCBI36 |
| NG_008385.1:g.40967G>A | |
| NG_008385.2:g.41467G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.961+2379G>A MANE Select | ENSP00000260682.6:n.961+2379G>A | |
| ENST00000643112.1:c.820-6559G>A | ENSP00000496202.1:n.820-6559G>A | |
| ENST00000260682.6:c.961+2379G>A | ENSP00000260682.6:n.961+2379G>A | |
| NM_000771.3:c.961+2379G>A | NP_000762.2:n.961+2379G>A | |
| NM_000771.4:c.961+2379G>A MANE Select | NP_000762.2:n.961+2379G>A |