Linked Data
dbSNP Id:
rs181436557
gnomAD v2:
10-96734359-A-G
gnomAD v3:
10-94974602-A-G
gnomAD v4:
10-94974602-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94974602A>G , CM000672.2:g.94974602A>G | GRCh38 |
| NC_000010.10:g.96734359A>G , CM000672.1:g.96734359A>G | GRCh37 |
| NC_000010.9:g.96724349A>G | NCBI36 |
| NG_008385.1:g.40945A>G | |
| NG_008385.2:g.41445A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.961+2357A>G MANE Select | ENSP00000260682.6:n.961+2357A>G | |
| ENST00000643112.1:c.820-6581A>G | ENSP00000496202.1:n.820-6581A>G | |
| ENST00000260682.6:c.961+2357A>G | ENSP00000260682.6:n.961+2357A>G | |
| NM_000771.3:c.961+2357A>G | NP_000762.2:n.961+2357A>G | |
| NM_000771.4:c.961+2357A>G MANE Select | NP_000762.2:n.961+2357A>G |