Linked Data
ClinVar Variation Id:
3589
ClinVar RCV Id:
RCV000003772
dbSNP Id:
rs121434275
gnomAD:
1:76226985 T / C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761300T>C , CM000663.2:g.75761300T>C | GRCh38 |
| NC_000001.10:g.76226985T>C , CM000663.1:g.76226985T>C | GRCh37 |
| NC_000001.9:g.75999573T>C | NCBI36 |
| NG_007045.2:g.41943T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_000016.5:c.1124T>C | NP_000007.1:p.Ile375Thr | |
| NM_001127328.2:c.1136T>C | NP_001120800.1:p.Ile379Thr | |
| NM_001286042.1:c.1016T>C | NP_001272971.1:p.Ile339Thr | |
| NM_001286043.1:c.1223T>C | NP_001272972.1:p.Ile408Thr | |
| NM_001286044.1:c.557T>C | NP_001272973.1:p.Ile186Thr | |
| NM_000016.6:c.1124T>C MANE Select | NP_000007.1:p.Ile375Thr | |
| NM_001127328.3:c.1136T>C | NP_001120800.1:p.Ile379Thr | |
| NM_001286042.2:c.1016T>C | NP_001272971.1:p.Ile339Thr | |
| NM_001286043.2:c.1223T>C | NP_001272972.1:p.Ile408Thr | |
| NM_001286044.2:c.557T>C | NP_001272973.1:p.Ile186Thr | |
| ENST00000370834.9:c.1223T>C | ENSP00000359871.5:p.Ile408Thr | |
| ENST00000370841.8:c.1124T>C | ENSP00000359878.4:p.Ile375Thr | |
| ENST00000420607.6:c.1136T>C | ENSP00000409612.2:p.Ile379Thr | |
| ENST00000481374.1:n.397T>C | ||
| ENST00000525808.5:c.*710T>C | ENSP00000434823.1:p.= | |
| ENST00000526129.5:c.*908T>C | ENSP00000434092.1:p.= | |
| ENST00000526196.5:c.*892T>C | ENSP00000431953.1:p.= | |
| ENST00000528016.1:n.160-7877T>C | ENSP00000434284.1:p.= | |
| ENST00000529059.5:n.1033T>C | ||
| ENST00000541113.5:c.1016T>C | ENSP00000442324.1:p.Ile339Thr |