Linked Data
ClinVar Variation Id:
936512
ClinVar RCV Id:
RCV001205324
dbSNP Id:
rs142951866
ExAC:
19:49477975 G / T
gnomAD v2:
19-49477975-G-T
gnomAD v3:
19-48974718-G-T
gnomAD v4:
19-48974718-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48974718G>T , CM000681.2:g.48974718G>T | GRCh38 |
| NC_000019.9:g.49477975G>T , CM000681.1:g.49477975G>T | GRCh37 |
| NC_000019.8:g.54169787G>T | NCBI36 |
| NG_012923.1:g.23636C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323798.8:c.1324C>A MANE Select | ENSP00000317904.3:p.Pro442Thr | |
| ENST00000263276.6:c.1132C>A | ENSP00000263276.6:p.Pro378Thr | |
| ENST00000323798.7:c.1324C>A | ENSP00000317904.3:p.Pro442Thr | |
| ENST00000472004.5:n.79C>A | ||
| ENST00000496048.1:n.231C>A | ||
| NM_001161587.1:c.1132C>A | NP_001155059.1:p.Pro378Thr | |
| NM_002103.4:c.1324C>A | NP_002094.2:p.Pro442Thr | |
| NR_027763.1:n.1383C>A | ||
| NM_002103.5:c.1324C>A MANE Select | NP_002094.2:p.Pro442Thr | |
| NM_001161587.2:c.1132C>A | NP_001155059.1:p.Pro378Thr | |
| NR_027763.2:n.1339C>A |