Linked Data
ClinVar Variation Id:
11908
dbSNP Id:
rs121965019
ExAC:
4:996535 G / A
gnomAD v2:
4-996535-G-A
gnomAD v3:
4-1002747-G-A
gnomAD v4:
4-1002747-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002747G>A , CM000666.2:g.1002747G>A | GRCh38 |
| NC_000004.11:g.996535G>A , CM000666.1:g.996535G>A | GRCh37 |
| NC_000004.10:g.986535G>A | NCBI36 |
| NG_008103.1:g.20751G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000247933.9:c.1205G>A | ENSP00000247933.4:p.Trp402Ter | |
| ENST00000514224.2:c.1205G>A MANE Select | ENSP00000425081.2:p.Trp402Ter | |
| ENST00000652070.1:n.1261G>A | ||
| ENST00000247933.8:c.1205G>A | ENSP00000247933.4:p.Trp402Ter | |
| ENST00000502829.1:n.7G>A | ||
| ENST00000514224.1:c.809G>A | ENSP00000425081.1:p.Trp270Ter | |
| ENST00000514698.5:n.1312G>A | ||
| NM_000203.4:c.1205G>A | NP_000194.2:p.Trp402Ter | |
| NR_110313.1:n.1293G>A | ||
| XM_006713882.2:c.809G>A | XP_006713945.1:p.Trp270Ter | |
| XM_011513459.1:c.1271G>A | XP_011511761.1:p.Trp424Ter | |
| XM_011513460.1:c.1064G>A | XP_011511762.1:p.Trp355Ter | |
| XM_011513461.1:c.998G>A | XP_011511763.1:p.Trp333Ter | |
| XM_011513462.1:c.917G>A | XP_011511764.1:p.Trp306Ter | |
| XM_011513463.1:c.917G>A | XP_011511765.1:p.Trp306Ter | |
| XR_924947.1:n.1274G>A | ||
| NM_000203.5:c.1205G>A MANE Select | NP_000194.2:p.Trp402Ter | |
| NM_001363576.1:c.809G>A | NP_001350505.1:p.Trp270Ter | |
| XM_011513461.2:c.998G>A | XP_011511763.1:p.Trp333Ter | |
| XM_017008163.1:c.245G>A | XP_016863652.1:p.Trp82Ter |