Linked Data
dbSNP Id:
rs745997358
ExAC:
X:85213879 C / G
gnomAD v2:
X-85213879-C-G
gnomAD v4:
X-85958874-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.85958874C>G , CM000685.2:g.85958874C>G | GRCh38 |
| NC_000023.10:g.85213879C>G , CM000685.1:g.85213879C>G | GRCh37 |
| NC_000023.9:g.85100535C>G | NCBI36 |
| NG_009874.2:g.93689G>C , LRG_699:g.93689G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357749.7:c.806G>C MANE Select | ENSP00000350386.2:p.Gly269Ala | |
| ENST00000357749.6:c.806G>C | ENSP00000350386.2:p.Gly269Ala | |
| ENST00000467744.2:n.126+68617G>C | ||
| NM_000390.2:c.806G>C , LRG_699t1:c.806G>C | NP_000381.1:p.Gly269Ala | |
| XM_006724615.2:c.743G>C | XP_006724678.1:p.Gly248Ala | |
| XM_011530839.1:c.362G>C | XP_011529141.1:p.Gly121Ala | |
| NM_000390.3:c.806G>C | NP_000381.1:p.Gly269Ala | |
| NM_001320959.1:c.362G>C | NP_001307888.1:p.Gly121Ala | |
| NM_001362517.1:c.362G>C | NP_001349446.1:p.Gly121Ala | |
| NM_001362518.1:c.362G>C | NP_001349447.1:p.Gly121Ala | |
| NM_001362519.1:c.362G>C | NP_001349448.1:p.Gly121Ala | |
| XM_017029242.2:c.806G>C | XP_016884731.1:p.Gly269Ala | |
| XM_017029246.1:c.362G>C | XP_016884735.1:p.Gly121Ala | |
| XM_024452331.1:c.362G>C | XP_024308099.1:p.Gly121Ala | |
| NM_000390.4:c.806G>C MANE Select | NP_000381.1:p.Gly269Ala | |
| NM_001362518.2:c.362G>C | NP_001349447.1:p.Gly121Ala |