Linked Data
ClinVar Variation Id:
2716142
ClinVar RCV Id:
RCV003496532
gnomAD v4:
1-23848744-A-G
MyVariant Identifiers:
chr1:g.24175234A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23848744A>G , CM000663.2:g.23848744A>G | GRCh38 |
| NC_000001.10:g.24175234A>G , CM000663.1:g.24175234A>G | GRCh37 |
| NC_000001.9:g.24047821A>G | NCBI36 |
| NG_013346.1:g.24626T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1065T>C MANE Select | ENSP00000363603.3:p.Leu355= | |
| ENST00000374479.3:c.1065T>C | ENSP00000363603.3:p.Leu355= | |
| NM_000147.4:c.1065T>C | NP_000138.2:p.Leu355= | |
| XM_005245821.1:c.690T>C | XP_005245878.1:p.Leu230= | |
| XM_011541167.1:c.432T>C | XP_011539469.1:p.Leu144= | |
| XM_005245821.3:c.690T>C | XP_005245878.1:p.Leu230= | |
| XM_011541167.3:c.432T>C | XP_011539469.1:p.Leu144= | |
| XM_017000905.2:c.762T>C | XP_016856394.1:p.Leu254= | |
| NM_000147.5:c.1065T>C MANE Select | NP_000138.2:p.Leu355= | |
| NR_174379.1:n.1243T>C | ||
| NR_174380.1:n.1292T>C | ||
| NR_174381.1:n.1131T>C | ||
| NR_174382.1:n.1528T>C |