Linked Data
dbSNP Id:
rs1307411170
gnomAD v2:
12-52309848-C-T
gnomAD v3:
12-51916064-C-T
gnomAD v4:
12-51916064-C-T
COSMIC:
COSM940606
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51916064C>T , CM000674.2:g.51916064C>T | GRCh38 |
| NC_000012.11:g.52309848C>T , CM000674.1:g.52309848C>T | GRCh37 |
| NC_000012.10:g.50596115C>T | NCBI36 |
| NG_009549.1:g.13647C>T , LRG_543:g.13647C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.807C>T | ENSP00000446724.2:p.Ser269= | |
| ENST00000551576.6:c.1077C>T | ENSP00000455848.2:p.Ser359= | |
| ENST00000552678.2:c.1077C>T | ENSP00000457394.2:p.Ser359= | |
| ENST00000388922.9:c.1077C>T MANE Select | ENSP00000373574.4:p.Ser359= | |
| ENST00000388922.8:c.1077C>T | ENSP00000373574.4:p.Ser359= | |
| ENST00000419526.6:c.555C>T | ENSP00000392492.2:p.Ser185= | |
| ENST00000547632.1:n.352C>T | ||
| ENST00000550683.5:c.1119C>T | ENSP00000447884.1:p.Ser373= | |
| ENST00000552678.1:c.82C>T | ||
| NM_000020.2:c.1077C>T , LRG_543t1:c.1077C>T | NP_000011.2:p.Ser359= | |
| NM_001077401.1:c.1077C>T | NP_001070869.1:p.Ser359= | |
| XM_005269235.2:c.1077C>T | XP_005269292.1:p.Ser359= | |
| XM_011539008.1:c.807C>T | XP_011537310.1:p.Ser269= | |
| XM_024449279.1:c.288C>T | XP_024305047.1:p.Ser96= | |
| NM_000020.3:c.1077C>T MANE Select | NP_000011.2:p.Ser359= | |
| NM_001077401.2:c.1077C>T | NP_001070869.1:p.Ser359= |