Linked Data
ClinVar Variation Id:
904
ClinVar RCV Id:
RCV000000952
dbSNP Id:
rs121918180
PubMed:
PMID:9490302
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65974348C>T , CM000669.2:g.65974348C>T | GRCh38 |
| NC_000007.13:g.65439335C>T , CM000669.1:g.65439335C>T | GRCh37 |
| NC_000007.12:g.65076770C>T | NCBI36 |
| NG_016197.1:g.12967G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304895.9:c.1338G>A MANE Select | ENSP00000302728.4:p.Trp446Ter | |
| ENST00000304895.8:c.1338G>A | ENSP00000302728.4:p.Trp446Ter | |
| ENST00000421103.5:c.900G>A | ENSP00000391390.1:p.Trp300Ter | |
| ENST00000430730.5:c.*605G>A | ENSP00000411859.1:n.*605G>A | |
| ENST00000447929.5:c.*718G>A | ENSP00000411262.1:n.*718G>A | |
| ENST00000462371.1:n.376G>A | ||
| ENST00000465785.5:n.571G>A | ||
| ENST00000466883.5:n.1813G>A | ||
| NM_000181.3:c.1338G>A | NP_000172.2:p.Trp446Ter | |
| NM_001284290.1:c.900G>A | NP_001271219.1:p.Trp300Ter | |
| NM_001293104.1:c.768G>A | NP_001280033.1:p.Trp256Ter | |
| NM_001293105.1:c.681G>A | NP_001280034.1:p.Trp227Ter | |
| NR_120531.1:n.1469G>A | ||
| XM_005250297.3:c.1185G>A | XP_005250354.1:p.Trp395Ter | |
| XM_011516113.1:c.837G>A | XP_011514415.1:p.Trp279Ter | |
| XM_011516114.1:c.666G>A | XP_011514416.1:p.Trp222Ter | |
| XR_927461.1:n.1424G>A | ||
| XM_005250297.4:c.1185G>A | XP_005250354.1:p.Trp395Ter | |
| XM_011516114.2:c.666G>A | XP_011514416.1:p.Trp222Ter | |
| XM_017012091.1:c.684G>A | XP_016867580.1:p.Trp228Ter | |
| XM_017012092.1:c.615G>A | XP_016867581.1:p.Trp205Ter | |
| XM_017012093.2:c.513G>A | XP_016867582.1:p.Trp171Ter | |
| XR_001744658.2:n.1230G>A | ||
| XR_001744659.2:n.1343G>A | ||
| XR_001744660.2:n.1190G>A | ||
| XR_001744661.2:n.1190G>A | ||
| XR_927461.3:n.1343G>A | ||
| NM_000181.4:c.1338G>A MANE Select | NP_000172.2:p.Trp446Ter | |
| NM_001284290.2:c.900G>A | NP_001271219.1:p.Trp300Ter | |
| NM_001293104.2:c.768G>A | NP_001280033.1:p.Trp256Ter | |
| NM_001293105.2:c.681G>A | NP_001280034.1:p.Trp227Ter | |
| NR_120531.2:n.1368G>A |