Linked Data
dbSNP Id:
rs200759892
ExAC:
15:40270357 A / T
gnomAD v2:
15-40270357-A-T
gnomAD v4:
15-39978156-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.39978156A>T , CM000677.2:g.39978156A>T | GRCh38 |
| NC_000015.9:g.40270357A>T , CM000677.1:g.40270357A>T | GRCh37 |
| NC_000015.8:g.38057649A>T | NCBI36 |
| NG_034053.1:g.49033A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263791.10:c.2319+9A>T MANE Select | ENSP00000263791.5:n.2319+9A>T | |
| ENST00000263791.9:c.2319+9A>T | ENSP00000263791.5:n.2319+9A>T | |
| ENST00000560855.5:c.1735+9A>T | ||
| ENST00000624709.1:n.1178A>T | ||
| NM_001013703.3:c.2319+9A>T | NP_001013725.2:n.2319+9A>T | |
| XM_005254392.1:c.2319+9A>T | XP_005254449.1:n.2319+9A>T | |
| XM_011521599.1:c.2319+9A>T | XP_011519901.1:n.2319+9A>T | |
| XM_011521600.1:c.2319+9A>T | XP_011519902.1:n.2319+9A>T | |
| XM_005254392.3:c.2319+9A>T | XP_005254449.1:n.2319+9A>T | |
| XM_011521599.2:c.2319+9A>T | XP_011519901.1:n.2319+9A>T | |
| XM_011521600.3:c.2319+9A>T | XP_011519902.1:n.2319+9A>T | |
| XM_017022219.2:c.2319+9A>T | XP_016877708.1:n.2319+9A>T | |
| NM_001013703.4:c.2319+9A>T MANE Select | NP_001013725.2:n.2319+9A>T |