Linked Data
dbSNP Id:
rs768475925
ExAC:
6:15627692 C / T
gnomAD v2:
6-15627692-C-T
gnomAD v4:
6-15627461-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.15627461C>T , CM000668.2:g.15627461C>T | GRCh38 |
| NC_000006.11:g.15627692C>T , CM000668.1:g.15627692C>T | GRCh37 |
| NC_000006.10:g.15735671C>T | NCBI36 |
| NG_009309.1:g.40580G>A , LRG_588:g.40580G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344537.10:c.237G>A MANE Select | ENSP00000341680.6:p.Glu79= | |
| ENST00000338950.9:c.237G>A | ENSP00000344718.5:p.Glu79= | |
| ENST00000344537.9:c.237G>A | ENSP00000341680.5:p.Glu79= | |
| ENST00000355917.7:c.186G>A | ENSP00000348183.4:p.Glu62= | |
| ENST00000506844.1:c.*235G>A | ENSP00000424202.1:n.*235G>A | |
| ENST00000510395.5:c.*147G>A | ENSP00000424685.1:n.*147G>A | |
| ENST00000511762.2:c.132G>A | ENSP00000427473.2:p.Glu44= | |
| ENST00000513680.5:c.*235G>A | ENSP00000424357.1:n.*235G>A | |
| ENST00000515875.5:c.186G>A | ENSP00000425495.1:p.Glu62= | |
| ENST00000622898.4:c.132G>A | ENSP00000481997.1:p.Glu44= | |
| NM_001271667.1:c.-7G>A | NP_001258596.1:n.-7G>A | |
| NM_001271668.1:c.186G>A | NP_001258597.1:p.Glu62= | |
| NM_001271669.1:c.132G>A | NP_001258598.1:p.Glu44= | |
| NM_032122.4:c.237G>A , LRG_588t1:c.237G>A | NP_115498.2:p.Glu79= | |
| NM_183040.2:c.237G>A , LRG_588t2:c.237G>A | NP_898861.1:p.Glu79= | |
| NR_036448.1:n.565G>A | ||
| XM_005249447.3:c.198G>A | XP_005249504.1:p.Glu66= | |
| XM_011514936.1:c.147G>A | XP_011513238.1:p.Glu49= | |
| XM_005249447.4:c.198G>A | XP_005249504.1:p.Glu66= | |
| XM_011514936.3:c.147G>A | XP_011513238.1:p.Glu49= | |
| NM_032122.5:c.237G>A MANE Select | NP_115498.2:p.Glu79= | |
| NR_036448.2:n.535G>A | ||
| NM_001271667.2:c.-7G>A | NP_001258596.1:n.-7G>A | |
| NM_001271668.2:c.186G>A | NP_001258597.1:p.Glu62= | |
| NM_001271669.2:c.132G>A | NP_001258598.1:p.Glu44= | |
| NR_036448.3:n.535G>A |