Linked Data
dbSNP Id:
rs766372564
ExAC:
3:113890764 C / T
gnomAD v2:
3-113890764-C-T
gnomAD v4:
3-114171917-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.114171917C>T , CM000665.2:g.114171917C>T | GRCh38 |
| NC_000003.11:g.113890764C>T , CM000665.1:g.113890764C>T | GRCh37 |
| NC_000003.10:g.115373454C>T | NCBI36 |
| NG_008842.2:g.32491G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698213.1:c.76G>A | ENSP00000513607.1:p.Ala26Thr | |
| ENST00000383673.5:c.76G>A MANE Select | ENSP00000373169.2:p.Ala26Thr | |
| ENST00000295881.9:c.76G>A | ENSP00000295881.6:p.Ala26Thr | |
| ENST00000383673.4:c.76G>A | ENSP00000373169.2:p.Ala26Thr | |
| ENST00000460779.5:c.76G>A | ENSP00000419402.1:p.Ala26Thr | |
| ENST00000467632.5:c.76G>A | ENSP00000420662.1:p.Ala26Thr | |
| NM_000796.5:c.76G>A | NP_000787.2:p.Ala26Thr | |
| NM_001282563.2:c.76G>A | NP_001269492.1:p.Ala26Thr | |
| NM_001290809.1:c.76G>A | NP_001277738.1:p.Ala26Thr | |
| NM_033663.5:c.76G>A | NP_387512.3:p.Ala26Thr | |
| XM_011512510.1:c.76G>A | XP_011510812.1:p.Ala26Thr | |
| XM_011512511.1:c.76G>A | XP_011510813.1:p.Ala26Thr | |
| XM_011512512.1:c.76G>A | XP_011510814.1:p.Ala26Thr | |
| XM_017005829.1:c.76G>A | XP_016861318.1:p.Ala26Thr | |
| NM_000796.6:c.76G>A MANE Select | NP_000787.2:p.Ala26Thr | |
| NM_033663.6:c.76G>A | NP_387512.3:p.Ala26Thr |