Linked Data
ClinVar Variation Id:
307580
dbSNP Id:
rs143802431
ExAC:
12:124212422 C / T
gnomAD v2:
12-124212422-C-T
gnomAD v3:
12-123727875-C-T
gnomAD v4:
12-123727875-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123727875C>T , CM000674.2:g.123727875C>T | GRCh38 |
| NC_000012.11:g.124212422C>T , CM000674.1:g.124212422C>T | GRCh37 |
| NC_000012.10:g.122778375C>T | NCBI36 |
| NG_012743.1:g.20558C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.614C>T MANE Select | ENSP00000332247.2:p.Ala205Val | |
| ENST00000540368.6:n.645C>T | ||
| ENST00000613625.5:c.614C>T | ENSP00000482236.1:p.Ala205Val | |
| ENST00000674794.1:c.54C>T | ||
| ENST00000675344.1:c.614C>T | ENSP00000501953.1:p.Ala205Val | |
| ENST00000330342.7:c.614C>T | ENSP00000332247.2:p.Ala205Val | |
| ENST00000504192.2:c.224C>T | ENSP00000443441.1:p.Ala75Val | |
| ENST00000540368.5:n.824C>T | ||
| ENST00000613625.4:c.614C>T | ENSP00000482236.1:p.Ala205Val | |
| NM_012463.3:c.614C>T | NP_036595.2:p.Ala205Val | |
| XM_005253563.1:c.614C>T | XP_005253620.1:p.Ala205Val | |
| XM_006719317.2:c.101C>T | XP_006719380.1:p.Ala34Val | |
| XR_429088.1:n.777C>T | ||
| XM_024448910.1:c.614C>T | XP_024304678.1:p.Ala205Val | |
| XM_024448911.1:c.101C>T | XP_024304679.1:p.Ala34Val | |
| NM_012463.4:c.614C>T MANE Select | NP_036595.2:p.Ala205Val |