Linked Data
ClinVar Variation Id:
5788
ClinVar RCV Id:
RCV000006144
dbSNP Id:
rs121908485
gnomAD v4:
19-32864733-A-G
PubMed:
PMID:12371955
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.32864733A>G , CM000681.2:g.32864733A>G | GRCh38 |
| NC_000019.9:g.33355639A>G , CM000681.1:g.33355639A>G | GRCh37 |
| NC_000019.8:g.38047479A>G | NCBI36 |
| NG_008258.1:g.10045T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000023064.9:c.131T>C MANE Select | ENSP00000023064.3:p.Ile44Thr | |
| ENST00000023064.8:c.131T>C | ENSP00000023064.3:p.Ile44Thr | |
| ENST00000587772.1:c.131T>C | ENSP00000468439.1:p.Ile44Thr | |
| ENST00000590341.5:c.131T>C | ENSP00000464822.1:p.Ile44Thr | |
| ENST00000590465.5:c.88-395T>C | ENSP00000468076.1:n.88-395T>C | |
| ENST00000592232.5:c.88-395T>C | ENSP00000465563.1:n.88-395T>C | |
| NM_001126335.1:c.131T>C | NP_001119807.1:p.Ile44Thr | |
| NM_001243036.1:c.131T>C | NP_001229965.1:p.Ile44Thr | |
| NM_014270.4:c.131T>C | NP_055085.1:p.Ile44Thr | |
| XM_006722992.1:c.-325T>C | XP_006723055.1:n.-325T>C | |
| XM_011526402.1:c.131T>C | XP_011524704.1:p.Ile44Thr | |
| XM_011526402.3:c.131T>C | XP_011524704.1:p.Ile44Thr | |
| XM_017026230.1:c.-29-395T>C | XP_016881719.1:n.-29-395T>C | |
| XM_024451334.1:c.-912T>C | XP_024307102.1:n.-912T>C | |
| NM_014270.5:c.131T>C MANE Select | NP_055085.1:p.Ile44Thr | |
| NM_001126335.2:c.131T>C | NP_001119807.1:p.Ile44Thr | |
| NM_001243036.2:c.131T>C | NP_001229965.1:p.Ile44Thr |