Linked Data
ClinVar Variation Id:
16941
ClinVar RCV Id:
RCV000018450
dbSNP Id:
rs121909598
ExAC:
2:208986452 C / T
gnomAD v2:
2-208986452-C-T
gnomAD v4:
2-208121728-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208121728C>T , CM000664.2:g.208121728C>T | GRCh38 |
| NC_000002.11:g.208986452C>T , CM000664.1:g.208986452C>T | GRCh37 |
| NC_000002.10:g.208694697C>T | NCBI36 |
| NG_008039.1:g.7862G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264376.5:c.470G>A MANE Select | ENSP00000264376.4:p.Trp157Ter | |
| ENST00000264376.4:c.470G>A | ENSP00000264376.4:p.Trp157Ter | |
| NM_006891.3:c.470G>A | NP_008822.2:p.Trp157Ter | |
| NR_038437.1:n.97+2503C>T | ||
| NM_006891.4:c.470G>A MANE Select | NP_008822.2:p.Trp157Ter |