Linked Data
ClinVar Variation Id:
48388
ClinVar RCV Id:
RCV000041710
RCV000669396
RCV001075329
RCV001852856
RCV003226175
RCV003450756
RCV003450757
dbSNP Id:
rs397517976
gnomAD v3:
1-215728142-C-T
gnomAD v4:
1-215728142-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215728142C>T , CM000663.2:g.215728142C>T | GRCh38 |
| NC_000001.10:g.215901484C>T , CM000663.1:g.215901484C>T | GRCh37 |
| NC_000001.9:g.213968107C>T | NCBI36 |
| NG_009497.1:g.700255G>A | |
| NG_009497.2:g.700307G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11954G>A MANE Select | ENSP00000305941.3:p.Trp3985Ter | |
| ENST00000674083.1:c.11954G>A | ENSP00000501296.1:p.Trp3985Ter | |
| ENST00000307340.7:c.11954G>A | ENSP00000305941.3:p.Trp3985Ter | |
| NM_206933.2:c.11954G>A | NP_996816.2:p.Trp3985Ter | |
| NM_206933.3:c.11954G>A | NP_996816.2:p.Trp3985Ter | |
| NM_206933.4:c.11954G>A MANE Select | NP_996816.3:p.Trp3985Ter |