Linked Data
ClinVar Variation Id:
1749587
ClinVar RCV Id:
RCV002359695
dbSNP Id:
rs756700088
ExAC:
5:127640670 G / T
gnomAD v2:
5-127640670-G-T
gnomAD v3:
5-128304978-G-T
gnomAD v4:
5-128304978-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128304978G>T , CM000667.2:g.128304978G>T | GRCh38 |
| NC_000005.9:g.127640670G>T , CM000667.1:g.127640670G>T | GRCh37 |
| NC_000005.8:g.127668569G>T | NCBI36 |
| NG_008750.1:g.238066C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2563C>A | ||
| ENST00000703785.1:n.2482C>A | ||
| ENST00000262464.9:c.5779C>A MANE Select | ENSP00000262464.4:p.Gln1927Lys | |
| ENST00000262464.8:c.5779C>A | ENSP00000262464.4:p.Gln1927Lys | |
| ENST00000508053.5:c.5779C>A | ENSP00000424571.1:p.Gln1927Lys | |
| ENST00000619499.4:c.5776C>A | ENSP00000482132.1:p.Gln1926Lys | |
| NM_001999.3:c.5779C>A | NP_001990.2:p.Gln1927Lys | |
| XM_017009228.2:c.5626C>A | XP_016864717.1:p.Gln1876Lys | |
| NM_001999.4:c.5779C>A MANE Select | NP_001990.2:p.Gln1927Lys |