Linked Data
dbSNP Id:
rs751786311
ExAC:
4:17513616 G / C
gnomAD v2:
4-17513616-G-C
gnomAD v4:
4-17511993-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.17511993G>C , CM000666.2:g.17511993G>C | GRCh38 |
| NC_000004.11:g.17513616G>C , CM000666.1:g.17513616G>C | GRCh37 |
| NC_000004.10:g.17122714G>C | NCBI36 |
| NG_008763.1:g.5242C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281243.10:c.62C>G MANE Select | ENSP00000281243.5:p.Ala21Gly | |
| ENST00000281243.9:c.62C>G | ENSP00000281243.5:p.Ala21Gly | |
| ENST00000428702.6:c.62C>G | ENSP00000390944.2:p.Ala21Gly | |
| ENST00000507439.5:c.62C>G | ENSP00000423227.1:p.Ala21Gly | |
| ENST00000508623.5:c.62C>G | ENSP00000426377.1:p.Ala21Gly | |
| ENST00000513615.5:c.62C>G | ENSP00000422759.1:p.Ala21Gly | |
| ENST00000514300.1:c.62C>G | ENSP00000426039.1:p.Ala21Gly | |
| NM_000320.2:c.62C>G | NP_000311.2:p.Ala21Gly | |
| NM_001306140.1:c.62C>G | NP_001293069.1:p.Ala21Gly | |
| XR_241677.1:n.225C>G | ||
| NR_156494.1:n.242C>G | ||
| NM_000320.3:c.62C>G MANE Select | NP_000311.2:p.Ala21Gly | |
| NM_001306140.2:c.62C>G | NP_001293069.1:p.Ala21Gly | |
| NR_156494.2:n.98C>G |