Linked Data
ClinVar Variation Id:
1961271
ClinVar RCV Id:
RCV002691193
dbSNP Id:
rs1007370884
gnomAD v3:
16-58709436-G-A
gnomAD v4:
16-58709436-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.58709436G>A , CM000678.2:g.58709436G>A | GRCh38 |
| NC_000016.9:g.58743340G>A , CM000678.1:g.58743340G>A | GRCh37 |
| NC_000016.8:g.57300841G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245206.10:c.1151C>T MANE Select | ENSP00000245206.5:p.Thr384Ile | |
| ENST00000245206.9:c.1151C>T | ENSP00000245206.5:p.Thr384Ile | |
| ENST00000434819.2:c.1022C>T | ENSP00000394100.2:p.Thr341Ile | |
| ENST00000494627.1:n.502C>T | ||
| NM_001286220.1:c.1022C>T | NP_001273149.1:p.Thr341Ile | |
| NM_002080.3:c.1151C>T | NP_002071.2:p.Thr384Ile | |
| NM_002080.4:c.1151C>T MANE Select | NP_002071.2:p.Thr384Ile | |
| NM_001286220.2:c.1022C>T | NP_001273149.1:p.Thr341Ile |