Linked Data
dbSNP Id:
rs758065887
ExAC:
1:20305005 G / C
gnomAD v2:
1-20305005-G-C
gnomAD v3:
1-19978512-G-C
gnomAD v4:
1-19978512-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19978512G>C , CM000663.2:g.19978512G>C | GRCh38 |
| NC_000001.10:g.20305005G>C , CM000663.1:g.20305005G>C | GRCh37 |
| NC_000001.9:g.20177592G>C | NCBI36 |
| NG_012928.1:g.6928C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482011.3:c.53C>G MANE Select | ENSP00000504762.1:p.Ala18Gly | |
| ENST00000400520.8:c.53C>G | ENSP00000383364.3:p.Ala18Gly | |
| ENST00000482011.2:c.53C>G | ENSP00000504762.1:p.Ala18Gly | |
| ENST00000649436.1:c.-1-28C>G | ENSP00000496912.1:n.-1-28C>G | |
| ENST00000375111.7:c.53C>G | ENSP00000364252.3:p.Ala18Gly | |
| ENST00000400520.7:c.53C>G | ENSP00000383364.3:p.Ala18Gly | |
| ENST00000461140.1:n.335-28C>G | ||
| ENST00000469162.5:n.219C>G | ||
| ENST00000482011.1:n.325C>G | ||
| ENST00000491964.5:n.285C>G | ||
| ENST00000496748.1:n.403C>G | ||
| NM_000300.3:c.53C>G | NP_000291.1:p.Ala18Gly | |
| NM_001161727.1:c.53C>G | NP_001155199.1:p.Ala18Gly | |
| NM_001161728.1:c.53C>G | NP_001155200.1:p.Ala18Gly | |
| NM_001161729.1:c.53C>G | NP_001155201.1:p.Ala18Gly | |
| NM_000300.4:c.53C>G | NP_000291.1:p.Ala18Gly | |
| NM_001161727.2:c.53C>G | NP_001155199.1:p.Ala18Gly | |
| NM_001161728.2:c.53C>G | NP_001155200.1:p.Ala18Gly | |
| NM_001395463.1:c.53C>G MANE Select | NP_001382392.1:p.Ala18Gly |