Linked Data
dbSNP Id:
rs1174247773
gnomAD v2:
15-61290208-G-A
gnomAD v3:
15-60998009-G-A
gnomAD v4:
15-60998009-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.60998009G>A , CM000677.2:g.60998009G>A | GRCh38 |
| NC_000015.9:g.61290208G>A , CM000677.1:g.61290208G>A | GRCh37 |
| NC_000015.8:g.59077500G>A | NCBI36 |
| NG_029246.1:g.236295C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335670.11:c.166+231044C>T MANE Select | ENSP00000335087.6:n.166+231044C>T | |
| ENST00000335670.10:c.166+231044C>T | ENSP00000335087.6:n.166+231044C>T | |
| ENST00000551975.5:c.81+231044C>T | ||
| ENST00000557822.5:n.191+231044C>T | ||
| ENST00000559145.1:n.173+231044C>T | ||
| ENST00000561093.1:n.179+231044C>T | ||
| NM_134261.2:c.166+231044C>T | NP_599023.1:n.166+231044C>T | |
| XM_011521876.1:c.34+17789C>T | XP_011520178.1:n.34+17789C>T | |
| XM_011521878.1:c.-328+231044C>T | XP_011520180.1:n.-328+231044C>T | |
| XM_011521878.2:c.-328+231044C>T | XP_011520180.1:n.-328+231044C>T | |
| NM_134261.3:c.166+231044C>T MANE Select | NP_599023.1:n.166+231044C>T |