Linked Data
dbSNP Id:
rs1363170287
gnomAD v2:
14-57268577-C-T
gnomAD v3:
14-56801859-C-T
gnomAD v4:
14-56801859-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.56801859C>T , CM000676.2:g.56801859C>T | GRCh38 |
| NC_000014.8:g.57268577C>T , CM000676.1:g.57268577C>T | GRCh37 |
| NC_000014.7:g.56338330C>T | NCBI36 |
| NG_008204.1:g.13608G>A | |
| NG_008204.2:g.19835G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554845.2:c.770G>A | ENSP00000451357.2:p.Gly257Asp | |
| ENST00000555804.2:c.746G>A | ENSP00000451272.2:p.Gly249Asp | |
| ENST00000685244.1:c.746G>A | ENSP00000508798.1:p.Gly249Asp | |
| ENST00000339475.10:c.746G>A | ENSP00000343819.5:p.Gly249Asp | |
| ENST00000408990.8:c.746G>A | ENSP00000386185.3:p.Gly249Asp | |
| ENST00000672125.1:c.383G>A | ENSP00000500744.1:p.Gly128Asp | |
| ENST00000672264.2:c.770G>A MANE Select | ENSP00000500115.1:p.Gly257Asp | |
| ENST00000673035.1:c.746G>A | ENSP00000500061.1:p.Gly249Asp | |
| ENST00000673481.1:c.770G>A | ENSP00000500595.1:p.Gly257Asp | |
| ENST00000339475.9:c.770G>A | ENSP00000343819.4:p.Gly257Asp | |
| ENST00000408990.7:c.746G>A | ENSP00000386185.3:p.Gly249Asp | |
| ENST00000554788.5:c.*486G>A | ENSP00000474486.1:n.*486G>A | |
| ENST00000555006.5:c.746G>A | ENSP00000452336.1:p.Gly249Asp | |
| NM_001270523.1:c.746G>A | NP_001257452.1:p.Gly249Asp | |
| NM_001270524.1:c.746G>A | NP_001257453.1:p.Gly249Asp | |
| NM_001270525.1:c.770G>A | NP_001257454.1:p.Gly257Asp | |
| NM_021728.3:c.770G>A | NP_068374.1:p.Gly257Asp | |
| NM_172337.2:c.746G>A | NP_758840.1:p.Gly249Asp | |
| NR_073034.1:n.878G>A | ||
| NR_073036.1:n.801G>A | ||
| NM_001270523.2:c.746G>A | NP_001257452.1:p.Gly249Asp | |
| NM_001270524.2:c.746G>A | NP_001257453.1:p.Gly249Asp | |
| NM_001270525.2:c.770G>A | NP_001257454.1:p.Gly257Asp | |
| NM_021728.4:c.770G>A MANE Select | NP_068374.1:p.Gly257Asp | |
| NM_172337.3:c.746G>A | NP_758840.1:p.Gly249Asp | |
| NR_073034.2:n.881G>A | ||
| NR_073036.2:n.805G>A |