Linked Data
ClinVar Variation Id:
2573484
ClinVar RCV Id:
RCV003317820
dbSNP Id:
rs779113747
ExAC:
12:96384186 C / T
gnomAD v2:
12-96384186-C-T
gnomAD v3:
12-95990408-C-T
gnomAD v4:
12-95990408-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.95990408C>T , CM000674.2:g.95990408C>T | GRCh38 |
| NC_000012.11:g.96384186C>T , CM000674.1:g.96384186C>T | GRCh37 |
| NC_000012.10:g.94908317C>T | NCBI36 |
| NG_008180.1:g.10886G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261208.8:c.840G>A MANE Select | ENSP00000261208.3:p.Trp280Ter | |
| ENST00000261208.7:c.840G>A | ENSP00000261208.3:p.Trp280Ter | |
| ENST00000538703.5:c.840G>A | ENSP00000440861.1:p.Trp280Ter | |
| ENST00000541929.5:c.216G>A | ENSP00000446364.1:p.Trp72Ter | |
| ENST00000544080.6:c.*269G>A | ENSP00000439385.2:n.*269G>A | |
| ENST00000546999.5:c.*269G>A | ENSP00000447675.1:n.*269G>A | |
| ENST00000549376.1:n.233G>A | ||
| ENST00000551562.1:n.100G>A | ||
| ENST00000552509.5:c.804G>A | ENSP00000450372.1:p.Trp268Ter | |
| NM_001258333.1:c.216G>A | NP_001245262.1:p.Trp72Ter | |
| NM_001258334.1:c.840G>A | NP_001245263.1:p.Trp280Ter | |
| NM_002108.3:c.840G>A | NP_002099.1:p.Trp280Ter | |
| XM_011538249.1:c.4-2168G>A | XP_011536551.1:n.4-2168G>A | |
| XM_011538249.2:c.4-2168G>A | XP_011536551.1:n.4-2168G>A | |
| NM_002108.4:c.840G>A MANE Select | NP_002099.1:p.Trp280Ter | |
| NM_001258334.2:c.840G>A | NP_001245263.1:p.Trp280Ter | |
| NM_001258333.2:c.216G>A | NP_001245262.1:p.Trp72Ter |