Linked Data
dbSNP Id:
rs10519097
gnomAD v2:
15-61290188-C-T
gnomAD v3:
15-60997989-C-T
gnomAD v4:
15-60997989-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.60997989C>T , CM000677.2:g.60997989C>T | GRCh38 |
| NC_000015.9:g.61290188C>T , CM000677.1:g.61290188C>T | GRCh37 |
| NC_000015.8:g.59077480C>T | NCBI36 |
| NG_029246.1:g.236315G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335670.11:c.166+231064G>A MANE Select | ENSP00000335087.6:n.166+231064G>A | |
| ENST00000335670.10:c.166+231064G>A | ENSP00000335087.6:n.166+231064G>A | |
| ENST00000551975.5:c.81+231064G>A | ||
| ENST00000557822.5:n.191+231064G>A | ||
| ENST00000559145.1:n.173+231064G>A | ||
| ENST00000561093.1:n.179+231064G>A | ||
| NM_134261.2:c.166+231064G>A | NP_599023.1:n.166+231064G>A | |
| XM_011521876.1:c.34+17809G>A | XP_011520178.1:n.34+17809G>A | |
| XM_011521878.1:c.-328+231064G>A | XP_011520180.1:n.-328+231064G>A | |
| XM_011521878.2:c.-328+231064G>A | XP_011520180.1:n.-328+231064G>A | |
| NM_134261.3:c.166+231064G>A MANE Select | NP_599023.1:n.166+231064G>A |