Linked Data
ClinVar Variation Id:
2767
ClinVar RCV Id:
RCV000002895
dbSNP Id:
rs137852899
gnomAD v4:
12-101764236-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101764236C>T , CM000674.2:g.101764236C>T | GRCh38 |
| NC_000012.11:g.102158014C>T , CM000674.1:g.102158014C>T | GRCh37 |
| NC_000012.10:g.100682145C>T | NCBI36 |
| NG_021243.1:g.71632G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.2681G>A MANE Select | ENSP00000299314.7:p.Trp894Ter | |
| ENST00000299314.11:c.2681G>A | ENSP00000299314.7:p.Trp894Ter | |
| NM_024312.4:c.2681G>A | NP_077288.2:p.Trp894Ter | |
| XM_006719593.2:c.2681G>A | XP_006719656.1:p.Trp894Ter | |
| XM_011538731.1:c.2600G>A | XP_011537033.1:p.Trp867Ter | |
| XM_006719593.3:c.2681G>A | XP_006719656.1:p.Trp894Ter | |
| XM_011538731.2:c.2600G>A | XP_011537033.1:p.Trp867Ter | |
| XM_017019961.1:c.2465G>A | XP_016875450.1:p.Trp822Ter | |
| XM_017019962.2:c.1454G>A | XP_016875451.1:p.Trp485Ter | |
| NM_024312.5:c.2681G>A MANE Select | NP_077288.2:p.Trp894Ter |