Linked Data
ClinVar Variation Id:
2590604
ClinVar RCV Id:
RCV004339310
dbSNP Id:
rs139930039
ExAC:
7:45148742 G / C
gnomAD v2:
7-45148742-G-C
gnomAD v3:
7-45109143-G-C
gnomAD v4:
7-45109143-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45109143G>C , CM000669.2:g.45109143G>C | GRCh38 |
| NC_000007.13:g.45148742G>C , CM000669.1:g.45148742G>C | GRCh37 |
| NC_000007.12:g.45115267G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258770.8:c.95C>G MANE Select | ENSP00000258770.3:p.Ala32Gly | |
| ENST00000258770.7:c.95C>G | ENSP00000258770.3:p.Ala32Gly | |
| ENST00000361278.7:c.95C>G | ENSP00000354992.3:p.Ala32Gly | |
| ENST00000395655.8:c.95C>G | ENSP00000379016.4:p.Ala32Gly | |
| ENST00000461363.1:c.-8-60C>G | ENSP00000417743.1:n.-8-60C>G | |
| ENST00000471142.5:n.200C>G | ||
| ENST00000475893.1:c.95C>G | ENSP00000417324.1:p.Ala32Gly | |
| ENST00000478532.5:c.95C>G | ENSP00000418631.1:p.Ala32Gly | |
| ENST00000482285.1:c.95C>G | ENSP00000417967.1:p.Ala32Gly | |
| ENST00000494076.5:c.95C>G | ENSP00000420597.1:p.Ala32Gly | |
| ENST00000495078.1:c.95C>G | ENSP00000417071.1:p.Ala32Gly | |
| NM_001261834.1:c.128C>G | NP_001248763.1:p.Ala43Gly | |
| NM_004749.3:c.95C>G | NP_004740.2:p.Ala32Gly | |
| NM_030900.3:c.95C>G | NP_112162.1:p.Ala32Gly | |
| NM_199122.2:c.95C>G | NP_954573.1:p.Ala32Gly | |
| NM_004749.4:c.95C>G MANE Select | NP_004740.2:p.Ala32Gly | |
| NM_001261834.2:c.128C>G | NP_001248763.1:p.Ala43Gly | |
| NM_030900.4:c.95C>G | NP_112162.1:p.Ala32Gly | |
| NM_199122.3:c.95C>G | NP_954573.1:p.Ala32Gly |