Linked Data
ClinVar Variation Id:
2749395
ClinVar RCV Id:
RCV003514936
gnomAD v4:
1-236829237-C-G
MyVariant Identifiers:
chr1:g.236992537C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236829237C>G , CM000663.2:g.236829237C>G | GRCh38 |
| NC_000001.10:g.236992537C>G , CM000663.1:g.236992537C>G | GRCh37 |
| NC_000001.9:g.235059160C>G | NCBI36 |
| NG_008959.1:g.38957C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366577.10:c.1044C>G MANE Select | ENSP00000355536.5:p.Ala348= | |
| ENST00000535889.6:c.1044C>G | ENSP00000441845.1:p.Ala348= | |
| ENST00000650888.1:c.*86C>G | ENSP00000498393.1:n.*86C>G | |
| ENST00000651455.1:c.1044C>G | ENSP00000498963.1:p.Ala348= | |
| ENST00000674797.2:c.696C>G | ENSP00000502299.2:p.Ala232= | |
| ENST00000679569.1:n.1358C>G | ||
| ENST00000679842.1:c.1044C>G | ENSP00000506109.1:p.Ala348= | |
| ENST00000680454.1:n.1488C>G | ||
| ENST00000681102.1:c.1044C>G | ENSP00000505600.1:p.Ala348= | |
| ENST00000681177.1:c.1044C>G | ENSP00000506327.1:p.Ala348= | |
| ENST00000681937.1:n.1676C>G | ||
| ENST00000366577.9:c.1044C>G | ENSP00000355536.5:p.Ala348= | |
| ENST00000463959.1:n.1063C>G | ||
| ENST00000535889.5:c.1044C>G | ENSP00000441845.1:p.Ala348= | |
| NM_000254.2:c.1044C>G | NP_000245.2:p.Ala348= | |
| NM_001291939.1:c.1044C>G | NP_001278868.1:p.Ala348= | |
| NM_001291940.1:c.-65C>G | NP_001278869.1:n.-65C>G | |
| XM_005273141.3:c.1041C>G | XP_005273198.1:p.Ala347= | |
| XM_006711769.2:c.1044C>G | XP_006711832.1:p.Ala348= | |
| XM_006711770.1:c.108C>G | XP_006711833.1:p.Ala36= | |
| XM_011544193.1:c.1044C>G | XP_011542495.1:p.Ala348= | |
| XM_011544194.1:c.1212C>G | XP_011542496.1:p.Ala404= | |
| XM_005273141.5:c.1041C>G | XP_005273198.1:p.Ala347= | |
| XM_006711770.3:c.108C>G | XP_006711833.1:p.Ala36= | |
| XM_011544194.3:c.1212C>G | XP_011542496.1:p.Ala404= | |
| XM_017001329.2:c.1212C>G | XP_016856818.1:p.Ala404= | |
| XM_017001330.2:c.1212C>G | XP_016856819.1:p.Ala404= | |
| NM_001291940.2:c.-65C>G | NP_001278869.1:n.-65C>G | |
| NM_000254.3:c.1044C>G MANE Select | NP_000245.2:p.Ala348= |