Linked Data
dbSNP Id:
rs945782732
gnomAD v3:
14-50180749-A-T
gnomAD v4:
14-50180749-A-T
MyVariant Identifiers:
chr14:g.50180749A>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50180749A>T , CM000676.2:g.50180749A>T | GRCh38 |
| NC_000014.8:g.50647467A>T , CM000676.1:g.50647467A>T | GRCh37 |
| NC_000014.7:g.49717217A>T | NCBI36 |
| NG_051073.1:g.55945T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.859-67T>A MANE Select | ENSP00000216373.5:n.859-67T>A | |
| ENST00000216373.9:c.859-67T>A | ENSP00000216373.5:n.859-67T>A | |
| ENST00000543680.5:c.859-67T>A | ENSP00000445328.1:n.859-67T>A | |
| NM_006939.2:c.859-67T>A | NP_008870.2:n.859-67T>A | |
| XM_005268021.1:c.679-67T>A | XP_005268078.1:n.679-67T>A | |
| XM_011537103.1:c.820-67T>A | XP_011535405.1:n.820-67T>A | |
| XM_011537104.1:c.859-67T>A | XP_011535406.1:n.859-67T>A | |
| XR_943842.1:n.954-3038A>T | ||
| XR_943843.1:n.954-3038A>T | ||
| NM_006939.3:c.859-67T>A | NP_008870.2:n.859-67T>A | |
| NM_006939.4:c.859-67T>A MANE Select | NP_008870.2:n.859-67T>A |