Linked Data
dbSNP Id:
rs548336249
ExAC:
15:58302813 G / A
gnomAD v2:
15-58302813-G-A
gnomAD v3:
15-58010615-G-A
gnomAD v4:
15-58010615-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58010615G>A , CM000677.2:g.58010615G>A | GRCh38 |
| NC_000015.9:g.58302813G>A , CM000677.1:g.58302813G>A | GRCh37 |
| NC_000015.8:g.56090105G>A | NCBI36 |
| NG_012259.1:g.60094C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249750.9:c.493+34C>T MANE Select | ENSP00000249750.4:n.493+34C>T | |
| ENST00000249750.8:c.493+34C>T | ENSP00000249750.4:n.493+34C>T | |
| ENST00000347587.7:c.493+34C>T | ENSP00000309623.3:n.493+34C>T | |
| ENST00000430119.6:c.*467+34C>T | ENSP00000416754.2:n.*467+34C>T | |
| ENST00000537372.5:c.430+34C>T | ENSP00000438296.1:n.430+34C>T | |
| ENST00000558231.5:c.406+34C>T | ENSP00000453600.1:n.406+34C>T | |
| ENST00000559266.5:n.318+3243C>T | ||
| ENST00000559517.5:c.205+34C>T | ENSP00000453408.1:n.205+34C>T | |
| ENST00000561070.5:c.205+34C>T | ENSP00000452850.1:n.205+34C>T | |
| NM_001206897.1:c.430+34C>T | NP_001193826.1:n.430+34C>T | |
| NM_003888.3:c.493+34C>T | NP_003879.2:n.493+34C>T | |
| NM_170696.2:c.493+34C>T | NP_733797.1:n.493+34C>T | |
| NM_170697.2:c.205+34C>T | NP_733798.1:n.205+34C>T | |
| XM_024450095.1:c.493+34C>T | XP_024305863.1:n.493+34C>T | |
| NM_003888.4:c.493+34C>T MANE Select | NP_003879.2:n.493+34C>T | |
| NM_170696.3:c.493+34C>T | NP_733797.1:n.493+34C>T | |
| NM_170697.3:c.205+34C>T | NP_733798.1:n.205+34C>T | |
| NM_001206897.2:c.430+34C>T | NP_001193826.1:n.430+34C>T |