Linked Data
ClinVar Variation Id:
2897507
ClinVar RCV Id:
RCV003620140
dbSNP Id:
rs764535961
ExAC:
12:52309145 T / C
gnomAD v2:
12-52309145-T-C
gnomAD v4:
12-51915361-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51915361T>C , CM000674.2:g.51915361T>C | GRCh38 |
| NC_000012.11:g.52309145T>C , CM000674.1:g.52309145T>C | GRCh37 |
| NC_000012.10:g.50595412T>C | NCBI36 |
| NG_009549.1:g.12944T>C , LRG_543:g.12944T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.639T>C | ENSP00000446724.2:p.Ala213= | |
| ENST00000551576.6:c.909T>C | ENSP00000455848.2:p.Ala303= | |
| ENST00000552678.2:c.909T>C | ENSP00000457394.2:p.Ala303= | |
| ENST00000388922.9:c.909T>C MANE Select | ENSP00000373574.4:p.Ala303= | |
| ENST00000388922.8:c.909T>C | ENSP00000373574.4:p.Ala303= | |
| ENST00000419526.6:c.387T>C | ENSP00000392492.2:p.Ala129= | |
| ENST00000550683.5:c.951T>C | ENSP00000447884.1:p.Ala317= | |
| NM_000020.2:c.909T>C , LRG_543t1:c.909T>C | NP_000011.2:p.Ala303= | |
| NM_001077401.1:c.909T>C | NP_001070869.1:p.Ala303= | |
| XM_005269235.2:c.909T>C | XP_005269292.1:p.Ala303= | |
| XM_011539008.1:c.639T>C | XP_011537310.1:p.Ala213= | |
| XM_024449279.1:c.120T>C | XP_024305047.1:p.Ala40= | |
| NM_000020.3:c.909T>C MANE Select | NP_000011.2:p.Ala303= | |
| NM_001077401.2:c.909T>C | NP_001070869.1:p.Ala303= |