Linked Data
dbSNP Id:
rs750460
gnomAD v2:
15-74241506-G-T
gnomAD v3:
15-73949165-G-T
gnomAD v4:
15-73949165-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73949165G>T , CM000677.2:g.73949165G>T | GRCh38 |
| NC_000015.9:g.74241506G>T , CM000677.1:g.74241506G>T | GRCh37 |
| NC_000015.8:g.72028559G>T | NCBI36 |
| NG_011466.1:g.27718G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261921.8:c.1603-294G>T MANE Select | ENSP00000261921.7:n.1603-294G>T | |
| ENST00000261921.7:c.1603-294G>T | ENSP00000261921.7:n.1603-294G>T | |
| ENST00000562548.1:n.688-294G>T | ||
| ENST00000566011.5:c.*491-294G>T | ENSP00000457827.1:n.*491-294G>T | |
| ENST00000566530.1:n.441-294G>T | ||
| ENST00000567675.1:n.76-294G>T | ||
| NM_005576.2:c.1603-294G>T | NP_005567.2:n.1603-294G>T | |
| XR_931824.1:n.2120-294G>T | ||
| NM_005576.3:c.1603-294G>T | NP_005567.2:n.1603-294G>T | |
| XM_017022179.1:c.556-294G>T | XP_016877668.1:n.556-294G>T | |
| XR_931824.2:n.2109-294G>T | ||
| NM_005576.4:c.1603-294G>T MANE Select | NP_005567.2:n.1603-294G>T |