Linked Data
dbSNP Id:
rs2086855989
gnomAD v4:
15-44711291-C-T
MyVariant Identifiers:
chr15:g.45003489C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711291C>T , CM000677.2:g.44711291C>T | GRCh38 |
| NC_000015.9:g.45003489C>T , CM000677.1:g.45003489C>T | GRCh37 |
| NC_000015.8:g.42790781C>T | NCBI36 |
| NG_012920.1:g.4805C>T | |
| NG_012920.2:g.4815C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682850.1:c.-525G>A MANE Select | ENSP00000508024.1:n.-525G>A | |
| ENST00000558573.1:n.26G>A | ||
| XM_011521338.1:c.-525G>A | XP_011519640.1:n.-525G>A | |
| XM_011521339.1:c.-406G>A | XP_011519641.1:n.-406G>A | |
| XM_011521340.1:c.-347G>A | XP_011519642.1:n.-347G>A | |
| XM_011521343.1:c.-609G>A | XP_011519645.1:n.-609G>A | |
| XM_011521345.1:c.-580G>A | XP_011519647.1:n.-580G>A | |
| XM_011521338.3:c.-525G>A | XP_011519640.1:n.-525G>A | |
| XM_011521339.3:c.-406G>A | XP_011519641.1:n.-406G>A | |
| XM_011521340.3:c.-347G>A | XP_011519642.1:n.-347G>A | |
| XM_011521343.3:c.-609G>A | XP_011519645.1:n.-609G>A | |
| XM_011521345.3:c.-580G>A | XP_011519647.1:n.-580G>A | |
| NM_001387260.1:c.-76+41G>A | NP_001374189.1:n.-76+41G>A | |
| NM_001387261.1:c.-347G>A | NP_001374190.1:n.-347G>A | |
| NM_001387262.1:c.-615G>A | NP_001374191.1:n.-615G>A | |
| NM_001387263.1:c.-525G>A MANE Select | NP_001374192.1:n.-525G>A |