Linked Data
ClinVar Variation Id:
2842079
ClinVar RCV Id:
RCV003721295
dbSNP Id:
rs1447363115
gnomAD v4:
22-50526394-G-T
MyVariant Identifiers:
chr22:g.50964823G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50526394G>T , CM000684.2:g.50526394G>T | GRCh38 |
| NC_000022.10:g.50964823G>T , CM000684.1:g.50964823G>T | GRCh37 |
| NC_000022.9:g.49311689G>T | NCBI36 |
| NG_011860.1:g.8692C>A , LRG_727:g.8692C>A | |
| NG_016235.1:g.5046C>A | |
| NG_021419.1:g.23179G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252029.8:c.1011C>A (TYMP) MANE Select | ENSP00000252029.3:p.Gly337= | |
| ENST00000395680.6:c.1011C>A (TYMP) | ENSP00000379037.1:p.Gly337= | |
| ENST00000395681.6:c.1011C>A (TYMP) | ENSP00000379038.1:p.Gly337= | |
| ENST00000543927.6:c.-162C>A (SCO2) | ENSP00000444433.1:n.-162C>A | |
| ENST00000650719.1:c.892C>A (TYMP) | ENSP00000498276.1:p.Leu298Ile | |
| ENST00000651401.1:c.495C>A (TYMP) | ENSP00000499115.1:p.Gly165= | |
| ENST00000652401.1:c.512C>A (TYMP) | ||
| ENST00000252029.7:c.1011C>A (TYMP) | ENSP00000252029.3:p.Gly337= | |
| ENST00000395678.7:c.1011C>A (TYMP) | ENSP00000379036.3:p.Gly337= | |
| ENST00000395680.5:c.1011C>A (TYMP) | ENSP00000379037.1:p.Gly337= | |
| ENST00000395681.5:c.1011C>A (TYMP) | ENSP00000379038.1:p.Gly337= | |
| ENST00000423348.1:c.-162C>A | ENSP00000403570.1:n.-162C>A | |
| ENST00000425169.1:c.912C>A (TYMP) | ENSP00000395875.1:p.Gly304= | |
| ENST00000476284.1:n.1017C>A (TYMP) | ||
| ENST00000487577.5:n.1298C>A (TYMP) | ||
| ENST00000543927.5:c.-162C>A | ENSP00000444433.1:n.-162C>A | |
| NM_001113755.2:c.1011C>A (TYMP) | NP_001107227.1:p.Gly337= | |
| NM_001113756.2:c.1011C>A (TYMP) | NP_001107228.1:p.Gly337= | |
| NM_001169109.1:c.-162C>A (SCO2) | NP_001162580.1:n.-162C>A | |
| NM_001257988.1:c.1011C>A , LRG_727t1:c.1011C>A (TYMP) | NP_001244917.1:p.Gly337= | |
| NM_001257989.1:c.1011C>A , LRG_727t2:c.1011C>A (TYMP) | NP_001244918.1:p.Gly337= | |
| NM_001953.4:c.1011C>A (TYMP) | NP_001944.1:p.Gly337= | |
| NM_001113755.3:c.1011C>A (TYMP) | NP_001107227.1:p.Gly337= | |
| NM_001113756.3:c.1011C>A (TYMP) | NP_001107228.1:p.Gly337= | |
| NM_001953.5:c.1011C>A (TYMP) MANE Select | NP_001944.1:p.Gly337= | |
| NM_001169109.2:c.-162C>A (SCO2) | NP_001162580.1:n.-162C>A |