Linked Data
ClinVar Variation Id:
407048
ClinVar RCV Id:
RCV000471316
dbSNP Id:
rs1060501387
gnomAD v4:
1-161356809-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161356809T>C , CM000663.2:g.161356809T>C | GRCh38 |
| NC_000001.10:g.161326599T>C , CM000663.1:g.161326599T>C | GRCh37 |
| NC_000001.9:g.159593223T>C | NCBI36 |
| NG_012767.1:g.47434T>C , LRG_317:g.47434T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470743.5:c.*375T>C | ENSP00000482902.2:n.*375T>C | |
| ENST00000367975.7:c.374T>C MANE Select | ENSP00000356953.3:p.Met125Thr | |
| ENST00000342751.8:c.242-5520T>C | ENSP00000356952.3:n.242-5520T>C | |
| ENST00000367975.6:c.374T>C | ENSP00000356953.2:p.Met125Thr | |
| ENST00000392169.6:c.215T>C | ENSP00000376009.2:p.Met72Thr | |
| ENST00000432287.6:c.272T>C | ENSP00000390558.2:p.Met91Thr | |
| ENST00000470743.4:c.472T>C | ||
| ENST00000504963.5:c.*197T>C | ENSP00000423929.1:n.*197T>C | |
| ENST00000513009.5:c.140-5520T>C | ENSP00000423260.1:n.140-5520T>C | |
| NM_001035511.1:c.242-5520T>C | NP_001030588.1:n.242-5520T>C | |
| NM_001035512.1:c.272T>C | NP_001030589.1:p.Met91Thr | |
| NM_001035513.1:c.215T>C | NP_001030590.1:p.Met72Thr | |
| NM_001278172.1:c.140-5520T>C | NP_001265101.1:n.140-5520T>C | |
| NM_003001.3:c.374T>C , LRG_317t1:c.374T>C | NP_002992.1:p.Met125Thr | |
| NR_103459.1:n.431T>C | ||
| NM_001035511.2:c.242-5520T>C | NP_001030588.1:n.242-5520T>C | |
| NM_001035512.2:c.272T>C | NP_001030589.1:p.Met91Thr | |
| NM_001035513.2:c.215T>C | NP_001030590.1:p.Met72Thr | |
| NM_001278172.2:c.140-5520T>C | NP_001265101.1:n.140-5520T>C | |
| NM_003001.5:c.374T>C MANE Select | NP_002992.1:p.Met125Thr | |
| NR_103459.2:n.426T>C |