Linked Data
ClinVar Variation Id:
210857
dbSNP Id:
rs77460377
ExAC:
6:15638035 C / T
gnomAD v2:
6-15638035-C-T
gnomAD v3:
6-15637804-C-T
gnomAD v4:
6-15637804-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.15637804C>T , CM000668.2:g.15637804C>T | GRCh38 |
| NC_000006.11:g.15638035C>T , CM000668.1:g.15638035C>T | GRCh37 |
| NC_000006.10:g.15746014C>T | NCBI36 |
| NG_009309.1:g.30237G>A , LRG_588:g.30237G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344537.10:c.162G>A MANE Select | ENSP00000341680.6:p.Arg54= | |
| ENST00000338950.9:c.162G>A | ENSP00000344718.5:p.Arg54= | |
| ENST00000344537.9:c.162G>A | ENSP00000341680.5:p.Arg54= | |
| ENST00000355917.7:c.111G>A | ENSP00000348183.4:p.Arg37= | |
| ENST00000506844.1:c.*160G>A | ENSP00000424202.1:n.*160G>A | |
| ENST00000510395.5:c.*72G>A | ENSP00000424685.1:n.*72G>A | |
| ENST00000511762.2:c.57G>A | ENSP00000427473.2:p.Gly19= | |
| ENST00000513680.5:c.*160G>A | ENSP00000424357.1:n.*160G>A | |
| ENST00000515875.5:c.111G>A | ENSP00000425495.1:p.Arg37= | |
| ENST00000622898.4:c.57G>A | ENSP00000481997.1:p.Gly19= | |
| NM_001271667.1:c.-82G>A | NP_001258596.1:n.-82G>A | |
| NM_001271668.1:c.111G>A | NP_001258597.1:p.Arg37= | |
| NM_001271669.1:c.57G>A | NP_001258598.1:p.Gly19= | |
| NM_032122.4:c.162G>A , LRG_588t1:c.162G>A | NP_115498.2:p.Arg54= | |
| NM_183040.2:c.162G>A , LRG_588t2:c.162G>A | NP_898861.1:p.Arg54= | |
| NR_036448.1:n.490G>A | ||
| XM_005249447.3:c.123G>A | XP_005249504.1:p.Arg41= | |
| XM_011514936.1:c.72G>A | XP_011513238.1:p.Arg24= | |
| XM_005249447.4:c.123G>A | XP_005249504.1:p.Arg41= | |
| XM_011514936.3:c.72G>A | XP_011513238.1:p.Arg24= | |
| NM_032122.5:c.162G>A MANE Select | NP_115498.2:p.Arg54= | |
| NR_036448.2:n.460G>A | ||
| NM_001271667.2:c.-82G>A | NP_001258596.1:n.-82G>A | |
| NM_001271668.2:c.111G>A | NP_001258597.1:p.Arg37= | |
| NM_001271669.2:c.57G>A | NP_001258598.1:p.Gly19= | |
| NR_036448.3:n.460G>A |