Linked Data
dbSNP Id:
rs11631179
gnomAD v2:
15-61277476-T-C
gnomAD v3:
15-60985277-T-C
gnomAD v4:
15-60985277-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.60985277T>C , CM000677.2:g.60985277T>C | GRCh38 |
| NC_000015.9:g.61277476T>C , CM000677.1:g.61277476T>C | GRCh37 |
| NC_000015.8:g.59064768T>C | NCBI36 |
| NG_029246.1:g.249027A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335670.11:c.166+243776A>G MANE Select | ENSP00000335087.6:n.166+243776A>G | |
| ENST00000335670.10:c.166+243776A>G | ENSP00000335087.6:n.166+243776A>G | |
| ENST00000551975.5:c.81+243776A>G | ||
| ENST00000557822.5:n.191+243776A>G | ||
| ENST00000559145.1:n.173+243776A>G | ||
| ENST00000561093.1:n.179+243776A>G | ||
| NM_134261.2:c.166+243776A>G | NP_599023.1:n.166+243776A>G | |
| XM_011521876.1:c.34+30521A>G | XP_011520178.1:n.34+30521A>G | |
| XM_011521878.1:c.-328+243776A>G | XP_011520180.1:n.-328+243776A>G | |
| XM_011521878.2:c.-328+243776A>G | XP_011520180.1:n.-328+243776A>G | |
| NM_134261.3:c.166+243776A>G MANE Select | NP_599023.1:n.166+243776A>G |