Linked Data
ClinVar Variation Id:
2997217
ClinVar RCV Id:
RCV003851336
dbSNP Id:
rs1319028012
gnomAD v2:
15-38545406-C-T
gnomAD v4:
15-38253205-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38253205C>T , CM000677.2:g.38253205C>T | GRCh38 |
| NC_000015.9:g.38545406C>T , CM000677.1:g.38545406C>T | GRCh37 |
| NC_000015.8:g.36332698C>T | NCBI36 |
| NG_008980.1:g.5355C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.20C>T MANE Select | ENSP00000299084.4:p.Thr7Ile | |
| ENST00000299084.8:c.20C>T | ENSP00000299084.4:p.Thr7Ile | |
| ENST00000561205.1:n.358C>T | ||
| ENST00000561317.1:c.-108C>T | ENSP00000453680.1:n.-108C>T | |
| NM_152594.2:c.20C>T | NP_689807.1:p.Thr7Ile | |
| XM_005254202.2:c.20C>T | XP_005254259.1:p.Thr7Ile | |
| XM_005254203.3:c.-28C>T | XP_005254260.1:n.-28C>T | |
| XM_005254202.3:c.20C>T | XP_005254259.1:p.Thr7Ile | |
| XR_001751484.1:n.87+362G>A | ||
| NM_152594.3:c.20C>T MANE Select | NP_689807.1:p.Thr7Ile |