Linked Data
dbSNP Id:
rs2086853914
gnomAD v4:
15-44711180-C-T
MyVariant Identifiers:
chr15:g.45003378C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711180C>T , CM000677.2:g.44711180C>T | GRCh38 |
| NC_000015.9:g.45003378C>T , CM000677.1:g.45003378C>T | GRCh37 |
| NC_000015.8:g.42790670C>T | NCBI36 |
| NG_012920.1:g.4694C>T | |
| NG_012920.2:g.4704C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682850.1:c.-414G>A MANE Select | ENSP00000508024.1:n.-414G>A | |
| ENST00000558573.1:n.137G>A | ||
| XM_011521338.1:c.-414G>A | XP_011519640.1:n.-414G>A | |
| XM_011521339.1:c.-295G>A | XP_011519641.1:n.-295G>A | |
| XM_011521340.1:c.-236G>A | XP_011519642.1:n.-236G>A | |
| XM_011521343.1:c.-498G>A | XP_011519645.1:n.-498G>A | |
| XM_011521345.1:c.-469G>A | XP_011519647.1:n.-469G>A | |
| XM_011521338.3:c.-414G>A | XP_011519640.1:n.-414G>A | |
| XM_011521339.3:c.-295G>A | XP_011519641.1:n.-295G>A | |
| XM_011521340.3:c.-236G>A | XP_011519642.1:n.-236G>A | |
| XM_011521343.3:c.-498G>A | XP_011519645.1:n.-498G>A | |
| XM_011521345.3:c.-469G>A | XP_011519647.1:n.-469G>A | |
| NM_001387260.1:c.-76+152G>A | NP_001374189.1:n.-76+152G>A | |
| NM_001387261.1:c.-236G>A | NP_001374190.1:n.-236G>A | |
| NM_001387262.1:c.-504G>A | NP_001374191.1:n.-504G>A | |
| NM_001387263.1:c.-414G>A MANE Select | NP_001374192.1:n.-414G>A |