Linked Data
ClinVar Variation Id:
885418
dbSNP Id:
rs549156119
ExAC:
14:74967706 C / T
gnomAD v2:
14-74967706-C-T
gnomAD v3:
14-74501003-C-T
gnomAD v4:
14-74501003-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74501003C>T , CM000676.2:g.74501003C>T | GRCh38 |
| NC_000014.8:g.74967706C>T , CM000676.1:g.74967706C>T | GRCh37 |
| NC_000014.7:g.74037459C>T | NCBI36 |
| NG_021486.1:g.116329G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261978.9:c.5347G>A MANE Select | ENSP00000261978.4:p.Gly1783Arg | |
| ENST00000261978.8:c.5347G>A | ENSP00000261978.4:p.Gly1783Arg | |
| ENST00000553939.5:c.*126G>A | ENSP00000452110.1:n.*126G>A | |
| ENST00000554861.1:n.565G>A | ||
| ENST00000556690.5:c.5215G>A | ENSP00000451477.1:p.Gly1739Arg | |
| NM_000428.2:c.5347G>A | NP_000419.1:p.Gly1783Arg | |
| XM_011536765.1:c.4966G>A | XP_011535067.1:p.Gly1656Arg | |
| XM_011536766.1:c.4888G>A | XP_011535068.1:p.Gly1630Arg | |
| XM_011536767.1:c.4864G>A | XP_011535069.1:p.Gly1622Arg | |
| XM_011536765.2:c.4966G>A | XP_011535067.1:p.Gly1656Arg | |
| NM_000428.3:c.5347G>A MANE Select | NP_000419.1:p.Gly1783Arg |