Linked Data
ClinVar Variation Id:
21068
ClinVar RCV Id:
RCV000020144
RCV000117117
RCV000272863
RCV000311501
RCV000676877
RCV001520666
RCV002311515
dbSNP Id:
rs17851582
ExAC:
19:1397443 G / A
gnomAD v2:
19-1397443-G-A
gnomAD v3:
19-1397444-G-A
gnomAD v4:
19-1397444-G-A
ERepo:
CA288884/MONDO:0012999/026
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1397444G>A , CM000681.2:g.1397444G>A | GRCh38 |
| NC_000019.9:g.1397443G>A , CM000681.1:g.1397443G>A | GRCh37 |
| NC_000019.8:g.1348443G>A | NCBI36 |
| NG_008283.1:g.18561G>A | |
| NG_009785.1:g.9110C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.626C>T MANE Select | ENSP00000252288.1:p.Thr209Met | |
| ENST00000640164.1:n.459C>T | ||
| ENST00000640762.1:c.557C>T | ENSP00000492031.1:p.Thr186Met | |
| ENST00000252288.6:c.626C>T | ENSP00000252288.1:p.Thr209Met | |
| NM_000156.5:c.626C>T | NP_000147.1:p.Thr209Met | |
| NM_000156.6:c.626C>T MANE Select | NP_000147.1:p.Thr209Met |