Linked Data
ClinVar Variation Id:
811065
dbSNP Id:
rs150038846
ExAC:
12:52309153 C / T
gnomAD v2:
12-52309153-C-T
gnomAD v3:
12-51915369-C-T
gnomAD v4:
12-51915369-C-T
ERepo:
CA6573017/MONDO:0010880/135
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51915369C>T , CM000674.2:g.51915369C>T | GRCh38 |
| NC_000012.11:g.52309153C>T , CM000674.1:g.52309153C>T | GRCh37 |
| NC_000012.10:g.50595420C>T | NCBI36 |
| NG_009549.1:g.12952C>T , LRG_543:g.12952C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.647C>T | ENSP00000446724.2:p.Ala216Val | |
| ENST00000551576.6:c.917C>T | ENSP00000455848.2:p.Ala306Val | |
| ENST00000552678.2:c.917C>T | ENSP00000457394.2:p.Ala306Val | |
| ENST00000388922.9:c.917C>T MANE Select | ENSP00000373574.4:p.Ala306Val | |
| ENST00000388922.8:c.917C>T | ENSP00000373574.4:p.Ala306Val | |
| ENST00000419526.6:c.395C>T | ENSP00000392492.2:p.Ala132Val | |
| ENST00000550683.5:c.959C>T | ENSP00000447884.1:p.Ala320Val | |
| NM_000020.2:c.917C>T , LRG_543t1:c.917C>T | NP_000011.2:p.Ala306Val | |
| NM_001077401.1:c.917C>T | NP_001070869.1:p.Ala306Val | |
| XM_005269235.2:c.917C>T | XP_005269292.1:p.Ala306Val | |
| XM_011539008.1:c.647C>T | XP_011537310.1:p.Ala216Val | |
| XM_024449279.1:c.128C>T | XP_024305047.1:p.Ala43Val | |
| NM_000020.3:c.917C>T MANE Select | NP_000011.2:p.Ala306Val | |
| NM_001077401.2:c.917C>T | NP_001070869.1:p.Ala306Val |