Linked Data
dbSNP Id:
rs772374678
ExAC:
12:52314552 G / A
gnomAD v2:
12-52314552-G-A
gnomAD v4:
12-51920768-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51920768G>A , CM000674.2:g.51920768G>A | GRCh38 |
| NC_000012.11:g.52314552G>A , CM000674.1:g.52314552G>A | GRCh37 |
| NC_000012.10:g.50600819G>A | NCBI36 |
| NG_009549.1:g.18351G>A , LRG_543:g.18351G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547400.6:c.1117G>A | ENSP00000446724.2:p.Gly373Ser | |
| ENST00000551576.6:c.1387G>A | ENSP00000455848.2:p.Gly463Ser | |
| ENST00000388922.9:c.1387G>A MANE Select | ENSP00000373574.4:p.Gly463Ser | |
| ENST00000388922.8:c.1387G>A | ENSP00000373574.4:p.Gly463Ser | |
| ENST00000419526.6:c.865G>A | ENSP00000392492.2:p.Gly289Ser | |
| ENST00000550683.5:c.1429G>A | ENSP00000447884.1:p.Gly477Ser | |
| NM_000020.2:c.1387G>A , LRG_543t1:c.1387G>A | NP_000011.2:p.Gly463Ser | |
| NM_001077401.1:c.1387G>A | NP_001070869.1:p.Gly463Ser | |
| XM_005269235.2:c.1387G>A | XP_005269292.1:p.Gly463Ser | |
| XM_011539008.1:c.1117G>A | XP_011537310.1:p.Gly373Ser | |
| XM_024449279.1:c.598G>A | XP_024305047.1:p.Gly200Ser | |
| NM_000020.3:c.1387G>A MANE Select | NP_000011.2:p.Gly463Ser | |
| NM_001077401.2:c.1387G>A | NP_001070869.1:p.Gly463Ser |