Linked Data
ClinVar Variation Id:
422399
ClinVar RCV Id:
RCV000478708
dbSNP Id:
rs1064795754
gnomAD v4:
9-32457240-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32457240A>G , CM000671.2:g.32457240A>G | GRCh38 |
| NC_000009.11:g.32457238A>G , CM000671.1:g.32457238A>G | GRCh37 |
| NC_000009.10:g.32447238A>G | NCBI36 |
| NG_046918.1:g.74085T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379868.6:c.2525T>C | ENSP00000369197.2:p.Ile842Thr | |
| ENST00000379883.3:c.2660T>C MANE Select | ENSP00000369213.2:p.Ile887Thr | |
| ENST00000679665.1:c.2447T>C | ENSP00000504921.1:p.Ile816Thr | |
| ENST00000679771.1:c.*2083T>C | ENSP00000505015.1:n.*2083T>C | |
| ENST00000679859.1:c.1160T>C | ENSP00000505702.1:p.Ile387Thr | |
| ENST00000680198.1:c.*2428T>C | ENSP00000505143.1:n.*2428T>C | |
| ENST00000680733.1:c.*2428T>C | ENSP00000504892.1:n.*2428T>C | |
| ENST00000681352.1:n.2192T>C | ||
| ENST00000681750.1:c.2510T>C | ENSP00000506413.1:p.Ile837Thr | |
| ENST00000379868.5:c.2051T>C | ENSP00000369197.1:p.Ile684Thr | |
| ENST00000379883.2:c.2660T>C | ENSP00000369213.2:p.Ile887Thr | |
| NM_014314.3:c.2660T>C | NP_055129.2:p.Ile887Thr | |
| NM_014314.4:c.2660T>C MANE Select | NP_055129.2:p.Ile887Thr | |
| NM_001385907.1:c.2654T>C | NP_001372836.1:p.Ile885Thr | |
| NM_001385909.1:c.2489T>C | NP_001372838.1:p.Ile830Thr | |
| NM_001385910.1:c.2219T>C | NP_001372839.1:p.Ile740Thr | |
| NM_001385912.1:c.2051T>C | NP_001372841.1:p.Ile684Thr | |
| NM_001385913.1:c.2645T>C | NP_001372842.1:p.Ile882Thr | |
| NM_001385914.1:c.2216T>C | NP_001372843.1:p.Ile739Thr |