Linked Data
ClinVar Variation Id:
2783738
ClinVar RCV Id:
RCV003641171
dbSNP Id:
rs1199127115
gnomAD v2:
5-127640669-T-G
gnomAD v3:
5-128304977-T-G
gnomAD v4:
5-128304977-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128304977T>G , CM000667.2:g.128304977T>G | GRCh38 |
| NC_000005.9:g.127640669T>G , CM000667.1:g.127640669T>G | GRCh37 |
| NC_000005.8:g.127668568T>G | NCBI36 |
| NG_008750.1:g.238067A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2564A>C | ||
| ENST00000703785.1:n.2483A>C | ||
| ENST00000262464.9:c.5780A>C MANE Select | ENSP00000262464.4:p.Gln1927Pro | |
| ENST00000262464.8:c.5780A>C | ENSP00000262464.4:p.Gln1927Pro | |
| ENST00000508053.5:c.5780A>C | ENSP00000424571.1:p.Gln1927Pro | |
| ENST00000619499.4:c.5777A>C | ENSP00000482132.1:p.Gln1926Pro | |
| NM_001999.3:c.5780A>C | NP_001990.2:p.Gln1927Pro | |
| XM_017009228.2:c.5627A>C | XP_016864717.1:p.Gln1876Pro | |
| NM_001999.4:c.5780A>C MANE Select | NP_001990.2:p.Gln1927Pro |