Linked Data
ClinVar Variation Id:
285420
dbSNP Id:
rs147464959
ExAC:
19:59010910 A / G
gnomAD v2:
19-59010910-A-G
gnomAD v3:
19-58499543-A-G
gnomAD v4:
19-58499543-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.58499543A>G , CM000681.2:g.58499543A>G | GRCh38 |
| NC_000019.9:g.59010910A>G , CM000681.1:g.59010910A>G | GRCh37 |
| NC_000019.8:g.63702722A>G | NCBI36 |
| NG_047124.1:g.17523T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263093.7:c.1616T>C MANE Select | ENSP00000263093.2:p.Met539Thr | |
| ENST00000263093.6:c.1616T>C | ENSP00000263093.2:p.Met539Thr | |
| ENST00000601355.1:c.1364T>C | ENSP00000470368.1:p.Met455Thr | |
| NM_012254.2:c.1616T>C | NP_036386.1:p.Met539Thr | |
| XM_011526363.1:c.1364T>C | XP_011524665.1:p.Met455Thr | |
| XM_011526364.1:c.1616T>C | XP_011524666.1:p.Met539Thr | |
| NM_001321196.1:c.1364T>C | NP_001308125.1:p.Met455Thr | |
| XM_011526364.2:c.1616T>C | XP_011524666.1:p.Met539Thr | |
| XR_001754024.1:n.21A>G | ||
| NM_012254.3:c.1616T>C MANE Select | NP_036386.1:p.Met539Thr | |
| NM_001321196.2:c.1364T>C | NP_001308125.1:p.Met455Thr |