Linked Data
ClinVar Variation Id:
2400491
ClinVar RCV Id:
RCV004236295
dbSNP Id:
rs541429130
ExAC:
17:33771643 C / A
gnomAD v2:
17-33771643-C-A
gnomAD v3:
17-35444624-C-A
gnomAD v4:
17-35444624-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35444624C>A , CM000679.2:g.35444624C>A | GRCh38 |
| NC_000017.10:g.33771643C>A , CM000679.1:g.33771643C>A | GRCh37 |
| NC_000017.9:g.30795756C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285013.11:c.1057G>T MANE Select | ENSP00000285013.6:p.Ala353Ser | |
| ENST00000285013.10:c.1057G>T | ENSP00000285013.6:p.Ala353Ser | |
| ENST00000526861.5:c.1057G>T | ENSP00000434439.1:p.Ala353Ser | |
| ENST00000530782.5:c.*26G>T | ENSP00000437298.1:n.*26G>T | |
| ENST00000532210.5:c.64G>T | ENSP00000435328.1:p.Ala22Ser | |
| ENST00000533791.5:c.1057G>T | ENSP00000467426.1:p.Ala353Ser | |
| ENST00000534689.5:c.103G>T | ENSP00000435442.1:p.Ala35Ser | |
| ENST00000542635.5:c.1057G>T | ENSP00000444016.1:p.Ala353Ser | |
| NM_144682.5:c.1057G>T | NP_653283.3:p.Ala353Ser | |
| XM_005257922.1:c.1057G>T | XP_005257979.1:p.Ala353Ser | |
| XM_005257923.1:c.1057G>T | XP_005257980.1:p.Ala353Ser | |
| XM_011524382.1:c.1057G>T | XP_011522684.1:p.Ala353Ser | |
| XM_011524383.1:c.64G>T | XP_011522685.1:p.Ala22Ser | |
| XM_005257922.2:c.1057G>T | XP_005257979.1:p.Ala353Ser | |
| XM_011524383.2:c.64G>T | XP_011522685.1:p.Ala22Ser | |
| XM_017024232.1:c.1057G>T | XP_016879721.1:p.Ala353Ser | |
| XM_017024233.1:c.1057G>T | XP_016879722.1:p.Ala353Ser | |
| XM_024450614.1:c.1057G>T | XP_024306382.1:p.Ala353Ser | |
| XM_024450615.1:c.1057G>T | XP_024306383.1:p.Ala353Ser | |
| XM_024450616.1:c.1057G>T | XP_024306384.1:p.Ala353Ser | |
| NM_144682.6:c.1057G>T MANE Select | NP_653283.3:p.Ala353Ser |