Linked Data
dbSNP Id:
rs751594548
ExAC:
1:115226854 A / G
gnomAD v2:
1-115226854-A-G
gnomAD v4:
1-114684233-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114684233A>G , CM000663.2:g.114684233A>G | GRCh38 |
| NC_000001.10:g.115226854A>G , CM000663.1:g.115226854A>G | GRCh37 |
| NC_000001.9:g.115028377A>G | NCBI36 |
| NG_008012.1:g.16323T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.501T>C | ENSP00000358551.4:p.Gly167= | |
| ENST00000520113.7:c.513T>C MANE Select | ENSP00000430075.3:p.Gly171= | |
| ENST00000637080.1:c.516T>C | ENSP00000489753.1:p.Gly172= | |
| ENST00000639077.1:n.178T>C | ||
| ENST00000369538.3:c.600T>C | ENSP00000358551.3:p.Gly200= | |
| ENST00000485564.3:n.387T>C | ||
| ENST00000520113.6:c.612T>C | ENSP00000430075.2:p.Gly204= | |
| NM_000036.2:c.612T>C | NP_000027.2:p.Gly204= | |
| NM_001172626.1:c.600T>C | NP_001166097.1:p.Gly200= | |
| NM_000036.3:c.513T>C MANE Select | NP_000027.3:p.Gly171= | |
| NM_001172626.2:c.501T>C | NP_001166097.2:p.Gly167= |