Linked Data
dbSNP Id:
rs775144792
gnomAD v4:
15-58010659-G-T
MyVariant Identifiers:
chr15:g.58302857G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58010659G>T , CM000677.2:g.58010659G>T | GRCh38 |
| NC_000015.9:g.58302857G>T , CM000677.1:g.58302857G>T | GRCh37 |
| NC_000015.8:g.56090149G>T | NCBI36 |
| NG_012259.1:g.60050C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249750.9:c.483C>A MANE Select | ENSP00000249750.4:p.Thr161= | |
| ENST00000249750.8:c.483C>A | ENSP00000249750.4:p.Thr161= | |
| ENST00000347587.7:c.483C>A | ENSP00000309623.3:p.Thr161= | |
| ENST00000430119.6:c.*457C>A | ENSP00000416754.2:n.*457C>A | |
| ENST00000537372.5:c.420C>A | ENSP00000438296.1:p.Thr140= | |
| ENST00000558231.5:c.396C>A | ENSP00000453600.1:p.Thr132= | |
| ENST00000559266.5:n.318+3199C>A | ||
| ENST00000559517.5:c.195C>A | ENSP00000453408.1:p.Thr65= | |
| ENST00000561070.5:c.195C>A | ENSP00000452850.1:p.Thr65= | |
| NM_001206897.1:c.420C>A | NP_001193826.1:p.Thr140= | |
| NM_003888.3:c.483C>A | NP_003879.2:p.Thr161= | |
| NM_170696.2:c.483C>A | NP_733797.1:p.Thr161= | |
| NM_170697.2:c.195C>A | NP_733798.1:p.Thr65= | |
| XM_024450095.1:c.483C>A | XP_024305863.1:p.Thr161= | |
| NM_003888.4:c.483C>A MANE Select | NP_003879.2:p.Thr161= | |
| NM_170696.3:c.483C>A | NP_733797.1:p.Thr161= | |
| NM_170697.3:c.195C>A | NP_733798.1:p.Thr65= | |
| NM_001206897.2:c.420C>A | NP_001193826.1:p.Thr140= |