Linked Data
ClinVar Variation Id:
766308
dbSNP Id:
rs527576404
ExAC:
14:50585080 A / G
gnomAD v2:
14-50585080-A-G
gnomAD v3:
14-50118362-A-G
gnomAD v4:
14-50118362-A-G
MyVariant Identifiers:
chr14:g.50585080A>G (hg19)
chr14:g.50585080_50585081delinsGT (hg19)
chr14:g.50118362A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50118362A>G , CM000676.2:g.50118362A>G | GRCh38 |
| NC_000014.8:g.50585080A>G , CM000676.1:g.50585080A>G | GRCh37 |
| NC_000014.7:g.49654830A>G | NCBI36 |
| NG_051073.1:g.118332T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.3981T>C MANE Select | ENSP00000216373.5:p.Asn1327= | |
| ENST00000216373.9:c.3981T>C | ENSP00000216373.5:p.Asn1327= | |
| ENST00000543680.5:c.3882T>C | ENSP00000445328.1:p.Asn1294= | |
| NM_006939.2:c.3981T>C | NP_008870.2:p.Asn1327= | |
| XM_005268021.1:c.3801T>C | XP_005268078.1:p.Asn1267= | |
| XM_011537103.1:c.3942T>C | XP_011535405.1:p.Asn1314= | |
| NM_006939.3:c.3981T>C | NP_008870.2:p.Asn1327= | |
| NM_006939.4:c.3981T>C MANE Select | NP_008870.2:p.Asn1327= |