Linked Data
ClinVar Variation Id:
2249091
ClinVar RCV Id:
RCV004113236
dbSNP Id:
rs1379671934
gnomAD v2:
12-129299483-C-A
gnomAD v3:
12-128814938-C-A
gnomAD v4:
12-128814938-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.128814938C>A , CM000674.2:g.128814938C>A | GRCh38 |
| NC_000012.11:g.129299483C>A , CM000674.1:g.129299483C>A | GRCh37 |
| NC_000012.10:g.127865436C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266771.10:c.679G>T MANE Select | ENSP00000266771.5:p.Ala227Ser | |
| ENST00000266771.9:c.679G>T | ENSP00000266771.5:p.Ala227Ser | |
| ENST00000366292.6:n.991G>T | ||
| ENST00000376740.8:c.258G>T | ||
| ENST00000376744.8:c.515G>T | ||
| ENST00000539703.1:n.329G>T | ||
| ENST00000614634.1:c.-164G>T | ENSP00000483143.1:n.-164G>T | |
| NM_145648.3:c.679G>T | NP_663623.1:p.Ala227Ser | |
| XM_011537895.1:c.829G>T | XP_011536197.1:p.Ala277Ser | |
| XR_429081.2:n.702G>T | ||
| XR_944494.1:n.852G>T | ||
| XR_944495.1:n.852G>T | ||
| XR_944496.1:n.852G>T | ||
| XR_944497.1:n.852G>T | ||
| XM_017018791.1:c.829G>T | XP_016874280.1:p.Ala277Ser | |
| XM_017018792.1:c.829G>T | XP_016874281.1:p.Ala277Ser | |
| XM_017018793.1:c.679G>T | XP_016874282.1:p.Ala227Ser | |
| XR_002957287.1:n.702G>T | ||
| XR_944496.2:n.852G>T | ||
| NM_145648.4:c.679G>T MANE Select | NP_663623.1:p.Ala227Ser |