Linked Data
dbSNP Id:
rs933977092
gnomAD v2:
15-61440587-A-G
gnomAD v3:
15-61148388-A-G
gnomAD v4:
15-61148388-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.61148388A>G , CM000677.2:g.61148388A>G | GRCh38 |
| NC_000015.9:g.61440587A>G , CM000677.1:g.61440587A>G | GRCh37 |
| NC_000015.8:g.59227879A>G | NCBI36 |
| NG_029246.1:g.85916T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335670.11:c.166+80665T>C MANE Select | ENSP00000335087.6:n.166+80665T>C | |
| ENST00000335670.10:c.166+80665T>C | ENSP00000335087.6:n.166+80665T>C | |
| ENST00000551975.5:c.81+80665T>C | ||
| ENST00000557822.5:n.191+80665T>C | ||
| ENST00000559145.1:n.173+80665T>C | ||
| ENST00000560300.1:n.181+80665T>C | ||
| ENST00000561093.1:n.179+80665T>C | ||
| NM_134261.2:c.166+80665T>C | NP_599023.1:n.166+80665T>C | |
| XM_011521878.1:c.-328+80665T>C | XP_011520180.1:n.-328+80665T>C | |
| XM_011521878.2:c.-328+80665T>C | XP_011520180.1:n.-328+80665T>C | |
| NM_134261.3:c.166+80665T>C MANE Select | NP_599023.1:n.166+80665T>C |