Linked Data
ClinVar Variation Id:
162098
ClinVar RCV Id:
RCV000150041
dbSNP Id:
rs727502866
ExAC:
6:15638020 C / T
gnomAD v2:
6-15638020-C-T
gnomAD v4:
6-15637789-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.15637789C>T , CM000668.2:g.15637789C>T | GRCh38 |
| NC_000006.11:g.15638020C>T , CM000668.1:g.15638020C>T | GRCh37 |
| NC_000006.10:g.15745999C>T | NCBI36 |
| NG_009309.1:g.30252G>A , LRG_588:g.30252G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344537.10:c.177G>A MANE Select | ENSP00000341680.6:p.Trp59Ter | |
| ENST00000338950.9:c.177G>A | ENSP00000344718.5:p.Trp59Ter | |
| ENST00000344537.9:c.177G>A | ENSP00000341680.5:p.Trp59Ter | |
| ENST00000355917.7:c.126G>A | ENSP00000348183.4:p.Trp42Ter | |
| ENST00000506844.1:c.*175G>A | ENSP00000424202.1:n.*175G>A | |
| ENST00000510395.5:c.*87G>A | ENSP00000424685.1:n.*87G>A | |
| ENST00000511762.2:c.72G>A | ENSP00000427473.2:p.Trp24Ter | |
| ENST00000513680.5:c.*175G>A | ENSP00000424357.1:n.*175G>A | |
| ENST00000515875.5:c.126G>A | ENSP00000425495.1:p.Trp42Ter | |
| ENST00000622898.4:c.72G>A | ENSP00000481997.1:p.Trp24Ter | |
| NM_001271667.1:c.-67G>A | NP_001258596.1:n.-67G>A | |
| NM_001271668.1:c.126G>A | NP_001258597.1:p.Trp42Ter | |
| NM_001271669.1:c.72G>A | NP_001258598.1:p.Trp24Ter | |
| NM_032122.4:c.177G>A , LRG_588t1:c.177G>A | NP_115498.2:p.Trp59Ter | |
| NM_183040.2:c.177G>A , LRG_588t2:c.177G>A | NP_898861.1:p.Trp59Ter | |
| NR_036448.1:n.505G>A | ||
| XM_005249447.3:c.138G>A | XP_005249504.1:p.Trp46Ter | |
| XM_011514936.1:c.87G>A | XP_011513238.1:p.Trp29Ter | |
| XM_005249447.4:c.138G>A | XP_005249504.1:p.Trp46Ter | |
| XM_011514936.3:c.87G>A | XP_011513238.1:p.Trp29Ter | |
| NM_032122.5:c.177G>A MANE Select | NP_115498.2:p.Trp59Ter | |
| NR_036448.2:n.475G>A | ||
| NM_001271667.2:c.-67G>A | NP_001258596.1:n.-67G>A | |
| NM_001271668.2:c.126G>A | NP_001258597.1:p.Trp42Ter | |
| NM_001271669.2:c.72G>A | NP_001258598.1:p.Trp24Ter | |
| NR_036448.3:n.475G>A |