Linked Data
ClinVar Variation Id:
286343
dbSNP Id:
rs34415062
ExAC:
19:59023166 G / A
gnomAD v2:
19-59023166-G-A
gnomAD v3:
19-58511799-G-A
gnomAD v4:
19-58511799-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.58511799G>A , CM000681.2:g.58511799G>A | GRCh38 |
| NC_000019.9:g.59023166G>A , CM000681.1:g.59023166G>A | GRCh37 |
| NC_000019.8:g.63714978G>A | NCBI36 |
| NG_047124.1:g.5267C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263093.7:c.157C>T MANE Select | ENSP00000263093.2:p.Arg53Trp | |
| ENST00000263093.6:c.157C>T | ENSP00000263093.2:p.Arg53Trp | |
| ENST00000593745.1:n.615C>T | ||
| ENST00000601355.1:c.157C>T | ENSP00000470368.1:p.Arg53Trp | |
| NM_012254.2:c.157C>T | NP_036386.1:p.Arg53Trp | |
| XM_011526363.1:c.157C>T | XP_011524665.1:p.Arg53Trp | |
| XM_011526364.1:c.157C>T | XP_011524666.1:p.Arg53Trp | |
| NM_001321196.1:c.157C>T | NP_001308125.1:p.Arg53Trp | |
| XM_011526364.2:c.157C>T | XP_011524666.1:p.Arg53Trp | |
| XM_017026214.2:c.157C>T | XP_016881703.1:p.Arg53Trp | |
| NM_012254.3:c.157C>T MANE Select | NP_036386.1:p.Arg53Trp | |
| NM_001321196.2:c.157C>T | NP_001308125.1:p.Arg53Trp |