Linked Data
ClinVar Variation Id:
475271
dbSNP Id:
rs12037217
ExAC:
1:85742023 C / A
gnomAD v2:
1-85742023-C-A
gnomAD v3:
1-85276340-C-A
gnomAD v4:
1-85276340-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.85276340C>A , CM000663.2:g.85276340C>A | GRCh38 |
| NC_000001.10:g.85742023C>A , CM000663.1:g.85742023C>A | GRCh37 |
| NC_000001.9:g.85514611C>A | NCBI36 |
| NG_012216.1:g.6561G>T | |
| NG_012216.2:g.5565G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620248.3:c.13G>T | ENSP00000480561.2:p.Ala5Ser | |
| ENST00000620248.2:c.13G>T | ENSP00000480561.2:p.Ala5Ser | |
| ENST00000648566.1:c.13G>T MANE Select | ENSP00000498104.1:p.Ala5Ser | |
| ENST00000649060.1:c.13G>T | ENSP00000497490.1:p.Ala5Ser | |
| ENST00000649434.1:n.79G>T | ||
| ENST00000370580.5:c.13G>T | ENSP00000359612.1:p.Ala5Ser | |
| ENST00000620248.1:c.13G>T | ENSP00000480561.1:p.Ala5Ser | |
| NM_003921.4:c.13G>T | NP_003912.1:p.Ala5Ser | |
| XM_005271311.2:c.13G>T | XP_005271368.1:p.Ala5Ser | |
| NM_001320715.1:c.13G>T | NP_001307644.1:p.Ala5Ser | |
| NM_003921.5:c.13G>T MANE Select | NP_003912.1:p.Ala5Ser | |
| NM_001320715.2:c.13G>T | NP_001307644.1:p.Ala5Ser |