Linked Data
dbSNP Id:
rs751574668
ExAC:
12:57905508 G / A
gnomAD v2:
12-57905508-G-A
gnomAD v4:
12-57511725-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57511725G>A , CM000674.2:g.57511725G>A | GRCh38 |
| NC_000012.11:g.57905508G>A , CM000674.1:g.57905508G>A | GRCh37 |
| NC_000012.10:g.56191775G>A | NCBI36 |
| NG_034077.1:g.28773G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.1396G>A MANE Select | ENSP00000262027.5:p.Gly466Arg | |
| ENST00000262027.9:c.1396G>A | ENSP00000262027.5:p.Gly466Arg | |
| ENST00000447721.6:n.1038G>A | ||
| ENST00000537638.6:c.1396G>A | ENSP00000446168.2:p.Gly466Arg | |
| ENST00000545888.6:c.*897G>A | ENSP00000439307.2:n.*897G>A | |
| ENST00000546971.5:n.140G>A | ||
| ENST00000548944.1:c.134-4770G>A | ENSP00000449071.1:n.134-4770G>A | |
| ENST00000549603.1:n.342G>A | ||
| ENST00000628866.2:c.*897G>A | ENSP00000486738.1:n.*897G>A | |
| NM_004990.3:c.1396G>A | NP_004981.2:p.Gly466Arg | |
| XM_006719398.2:c.694G>A | XP_006719461.1:p.Gly232Arg | |
| XM_011538353.1:c.1396G>A | XP_011536655.1:p.Gly466Arg | |
| XM_006719398.4:c.694G>A | XP_006719461.1:p.Gly232Arg | |
| XR_001748704.2:n.1419G>A | ||
| XR_002957327.1:n.1343G>A | ||
| NM_004990.4:c.1396G>A MANE Select | NP_004981.2:p.Gly466Arg |