Linked Data
dbSNP Id:
rs760730368
ExAC:
14:88412032 C / T
gnomAD v2:
14-88412032-C-T
gnomAD v4:
14-87945688-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87945688C>T , CM000676.2:g.87945688C>T | GRCh38 |
| NC_000014.8:g.88412032C>T , CM000676.1:g.88412032C>T | GRCh37 |
| NC_000014.7:g.87481785C>T | NCBI36 |
| NG_011853.2:g.52876G>A | |
| NG_011853.3:g.52876G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.1535G>A MANE Select | ENSP00000261304.2:p.Gly512Asp | |
| ENST00000261304.6:c.1535G>A | ENSP00000261304.2:p.Gly512Asp | |
| ENST00000393568.8:c.1466G>A | ENSP00000377198.4:p.Gly489Asp | |
| ENST00000393569.6:c.1457G>A | ENSP00000377199.2:p.Gly486Asp | |
| ENST00000544807.6:c.1367G>A | ENSP00000437513.2:p.Gly456Asp | |
| ENST00000555000.5:c.902G>A | ENSP00000450472.1:p.Gly301Asp | |
| ENST00000555179.1:c.206+2040G>A | ||
| ENST00000557316.5:c.*933G>A | ENSP00000452314.1:n.*933G>A | |
| NM_000153.3:c.1535G>A | NP_000144.2:p.Gly512Asp | |
| NM_001201401.1:c.1466G>A | NP_001188330.1:p.Gly489Asp | |
| NM_001201402.1:c.1457G>A | NP_001188331.1:p.Gly486Asp | |
| XM_011536618.1:c.1367G>A | XP_011534920.1:p.Gly456Asp | |
| XM_011536618.2:c.1367G>A | XP_011534920.1:p.Gly456Asp | |
| NM_000153.4:c.1535G>A MANE Select | NP_000144.2:p.Gly512Asp | |
| NM_001201401.2:c.1466G>A | NP_001188330.1:p.Gly489Asp | |
| NM_001201402.2:c.1457G>A | NP_001188331.1:p.Gly486Asp |