Linked Data
dbSNP Id:
rs12915901
gnomAD v2:
15-58279432-G-A
gnomAD v3:
15-57987234-G-A
gnomAD v4:
15-57987234-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.57987234G>A , CM000677.2:g.57987234G>A | GRCh38 |
| NC_000015.9:g.58279432G>A , CM000677.1:g.58279432G>A | GRCh37 |
| NC_000015.8:g.56066724G>A | NCBI36 |
| NG_012259.1:g.83475C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000249750.9:c.798+5471C>T MANE Select | ENSP00000249750.4:n.798+5471C>T | |
| ENST00000249750.8:c.798+5471C>T | ENSP00000249750.4:n.798+5471C>T | |
| ENST00000347587.7:c.684+5711C>T | ENSP00000309623.3:n.684+5711C>T | |
| ENST00000430119.6:c.*772+5471C>T | ENSP00000416754.2:n.*772+5471C>T | |
| ENST00000537372.5:c.735+5471C>T | ENSP00000438296.1:n.735+5471C>T | |
| ENST00000558231.5:c.711+5471C>T | ENSP00000453600.1:n.711+5471C>T | |
| ENST00000559517.5:c.510+5471C>T | ENSP00000453408.1:n.510+5471C>T | |
| NM_001206897.1:c.735+5471C>T | NP_001193826.1:n.735+5471C>T | |
| NM_003888.3:c.798+5471C>T | NP_003879.2:n.798+5471C>T | |
| NM_170696.2:c.684+5711C>T | NP_733797.1:n.684+5711C>T | |
| NM_170697.2:c.510+5471C>T | NP_733798.1:n.510+5471C>T | |
| NM_003888.4:c.798+5471C>T MANE Select | NP_003879.2:n.798+5471C>T | |
| NM_170696.3:c.684+5711C>T | NP_733797.1:n.684+5711C>T | |
| NM_170697.3:c.510+5471C>T | NP_733798.1:n.510+5471C>T | |
| NM_001206897.2:c.735+5471C>T | NP_001193826.1:n.735+5471C>T |