Linked Data
dbSNP Id:
rs758404412
ExAC:
5:151231000 A / C
gnomAD v2:
5-151231000-A-C
gnomAD v4:
5-151851439-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151851439A>C , CM000667.2:g.151851439A>C | GRCh38 |
| NC_000005.9:g.151231000A>C , CM000667.1:g.151231000A>C | GRCh37 |
| NC_000005.8:g.151211193A>C | NCBI36 |
| NG_011764.1:g.78398T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.863T>G MANE Select | ENSP00000274576.5:p.Val288Gly | |
| ENST00000274576.8:c.863T>G | ENSP00000274576.4:p.Val288Gly | |
| ENST00000455880.2:c.863T>G | ENSP00000411593.2:p.Val288Gly | |
| ENST00000462581.6:c.*621T>G | ENSP00000430595.1:n.*621T>G | |
| ENST00000471351.2:n.1146T>G | ||
| NM_000171.3:c.863T>G | NP_000162.2:p.Val288Gly | |
| NM_001146040.1:c.863T>G | NP_001139512.1:p.Val288Gly | |
| NM_001292000.1:c.614T>G | NP_001278929.1:p.Val205Gly | |
| XM_005268412.2:c.863T>G | XP_005268469.1:p.Val288Gly | |
| NM_000171.4:c.863T>G MANE Select | NP_000162.2:p.Val288Gly | |
| NM_001146040.2:c.863T>G | NP_001139512.1:p.Val288Gly | |
| NM_001292000.2:c.614T>G | NP_001278929.1:p.Val205Gly |