Linked Data
ClinVar Variation Id:
12032
ClinVar RCV Id:
RCV000012812
dbSNP Id:
rs104893644
ExAC:
2:27315234 G / A
gnomAD v2:
2-27315234-G-A
gnomAD v3:
2-27092366-G-A
gnomAD v4:
2-27092366-G-A
PubMed:
PMID:7833921
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27092366G>A , CM000664.2:g.27092366G>A | GRCh38 |
| NC_000002.11:g.27315234G>A , CM000664.1:g.27315234G>A | GRCh37 |
| NC_000002.10:g.27168738G>A | NCBI36 |
| NG_012199.1:g.10624G>A | |
| NG_012199.2:g.10624G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260599.11:c.127G>A | ENSP00000260599.6:p.Ala43Thr | |
| ENST00000429697.2:c.127G>A | ENSP00000404741.2:p.Ala43Thr | |
| ENST00000260598.10:c.127G>A MANE Select | ENSP00000260598.5:p.Ala43Thr | |
| ENST00000260598.9:c.127G>A | ENSP00000260598.5:p.Ala43Thr | |
| ENST00000260599.10:c.127G>A | ENSP00000260599.6:p.Ala43Thr | |
| ENST00000429697.1:c.127G>A | ENSP00000404741.1:p.Ala43Thr | |
| ENST00000490823.5:n.475G>A | ||
| NM_000221.2:c.127G>A | NP_000212.1:p.Ala43Thr | |
| NM_006488.2:c.127G>A | NP_006479.1:p.Ala43Thr | |
| XM_005264294.2:c.127G>A | XP_005264351.1:p.Ala43Thr | |
| XM_005264296.2:c.127G>A | XP_005264353.1:p.Ala43Thr | |
| XM_005264298.2:c.93-4363G>A | XP_005264355.1:n.93-4363G>A | |
| XM_006712008.2:c.127G>A | XP_006712071.1:p.Ala43Thr | |
| XM_006712009.2:c.127G>A | XP_006712072.1:p.Ala43Thr | |
| XM_006712010.2:c.127G>A | XP_006712073.1:p.Ala43Thr | |
| XM_006712011.2:c.127G>A | XP_006712074.1:p.Ala43Thr | |
| XM_006712012.2:c.127G>A | XP_006712075.1:p.Ala43Thr | |
| XM_006712013.2:c.127G>A | XP_006712076.1:p.Ala43Thr | |
| XM_006712014.2:c.93-4363G>A | XP_006712077.1:n.93-4363G>A | |
| XM_005264294.4:c.127G>A | XP_005264351.1:p.Ala43Thr | |
| XM_005264296.4:c.127G>A | XP_005264353.1:p.Ala43Thr | |
| XM_005264298.4:c.93-4363G>A | XP_005264355.1:n.93-4363G>A | |
| XM_006712008.4:c.127G>A | XP_006712071.1:p.Ala43Thr | |
| XM_006712009.4:c.127G>A | XP_006712072.1:p.Ala43Thr | |
| XM_006712010.4:c.127G>A | XP_006712073.1:p.Ala43Thr | |
| XM_006712011.4:c.127G>A | XP_006712074.1:p.Ala43Thr | |
| XM_006712012.4:c.127G>A | XP_006712075.1:p.Ala43Thr | |
| XM_006712013.4:c.127G>A | XP_006712076.1:p.Ala43Thr | |
| XM_006712014.4:c.93-4363G>A | XP_006712077.1:n.93-4363G>A | |
| XM_017004060.2:c.127G>A | XP_016859549.1:p.Ala43Thr | |
| XM_017004061.2:c.127G>A | XP_016859550.1:p.Ala43Thr | |
| NM_006488.3:c.127G>A MANE Select | NP_006479.1:p.Ala43Thr | |
| NM_000221.3:c.127G>A | NP_000212.1:p.Ala43Thr |