Linked Data
dbSNP Id:
rs759216662
ExAC:
1:171621484 C / A
gnomAD v2:
1-171621484-C-A
gnomAD v4:
1-171652344-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652344C>A , CM000663.2:g.171652344C>A | GRCh38 |
| NC_000001.10:g.171621484C>A , CM000663.1:g.171621484C>A | GRCh37 |
| NC_000001.9:g.169888107C>A | NCBI36 |
| NG_008859.1:g.5290G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.268G>T MANE Select | ENSP00000037502.5:p.Ala90Ser | |
| ENST00000638471.1:c.130+138G>T | ENSP00000491206.1:n.130+138G>T | |
| ENST00000037502.10:c.268G>T | ENSP00000037502.5:p.Ala90Ser | |
| ENST00000614688.1:c.268G>T | ENSP00000478680.1:p.Ala90Ser | |
| NM_000261.1:c.268G>T | NP_000252.1:p.Ala90Ser | |
| NM_000261.2:c.268G>T MANE Select | NP_000252.1:p.Ala90Ser |