Linked Data
ClinVar Variation Id:
699986
dbSNP Id:
rs772974568
ExAC:
19:1399178 C / T
gnomAD v2:
19-1399178-C-T
gnomAD v3:
19-1399179-C-T
gnomAD v4:
19-1399179-C-T
ERepo:
CA9043668/MONDO:0012999/026
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399179C>T , CM000681.2:g.1399179C>T | GRCh38 |
| NC_000019.9:g.1399178C>T , CM000681.1:g.1399178C>T | GRCh37 |
| NC_000019.8:g.1350178C>T | NCBI36 |
| NG_009785.1:g.7375G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.408G>A MANE Select | ENSP00000252288.1:p.Thr136= | |
| ENST00000447102.8:c.408G>A | ENSP00000403536.2:p.Thr136= | |
| ENST00000591788.3:c.91G>A | ||
| ENST00000640164.1:n.241G>A | ||
| ENST00000640762.1:c.339G>A | ENSP00000492031.1:p.Thr113= | |
| ENST00000252288.6:c.408G>A | ENSP00000252288.1:p.Thr136= | |
| ENST00000447102.7:c.408G>A | ENSP00000403536.2:p.Thr136= | |
| ENST00000591788.2:c.93G>A | ENSP00000466341.2:p.Thr31= | |
| NM_000156.5:c.408G>A | NP_000147.1:p.Thr136= | |
| NM_138924.2:c.408G>A | NP_620279.1:p.Thr136= | |
| NM_000156.6:c.408G>A MANE Select | NP_000147.1:p.Thr136= | |
| NM_138924.3:c.408G>A | NP_620279.1:p.Thr136= |