Linked Data
ClinVar Variation Id:
103315
dbSNP Id:
rs199475878
ExAC:
19:56407485 C / T
gnomAD v2:
19-56407485-C-T
gnomAD v3:
19-55896119-C-T
gnomAD v4:
19-55896119-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55896119C>T , CM000681.2:g.55896119C>T | GRCh38 |
| NC_000019.9:g.56407485C>T , CM000681.1:g.56407485C>T | GRCh37 |
| NC_000019.8:g.61099297C>T | NCBI36 |
| NG_053013.1:g.41218G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342929.4:c.2958G>A MANE Select | ENSP00000343891.3:p.Gly986= | |
| ENST00000342929.3:c.2958G>A | ENSP00000343891.3:p.Gly986= | |
| ENST00000588751.5:c.2958G>A | ENSP00000467899.1:p.Gly986= | |
| NM_176810.2:c.2958G>A MANE Select | NP_789780.2:p.Gly986= | |
| XM_005258510.1:c.2958G>A | XP_005258567.1:p.Gly986= | |
| NM_001321057.1:c.2958G>A | NP_001307986.1:p.Gly986= |