Linked Data
ClinVar Variation Id:
523832
dbSNP Id:
rs1473345628
gnomAD v3:
2-110123968-C-T
gnomAD v4:
2-110123968-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.110123968C>T , CM000664.2:g.110123968C>T | GRCh38 |
| NC_000002.11:g.110881545C>T , CM000664.1:g.110881545C>T | GRCh37 |
| NC_000002.10:g.110238834C>T | NCBI36 |
| NG_008287.1:g.86095G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445609.7:c.1857G>A MANE Select | ENSP00000389879.3:p.Trp619Ter | |
| ENST00000674677.1:c.3475G>A | ENSP00000502265.1:n.3475G>A | |
| ENST00000675067.1:c.1056G>A | ENSP00000502817.1:p.Trp352Ter | |
| ENST00000675294.1:n.6106G>A | ||
| ENST00000675356.1:n.2535G>A | ||
| ENST00000675632.1:n.3261G>A | ||
| ENST00000675752.1:n.3695G>A | ||
| ENST00000676028.1:c.1674G>A | ENSP00000502639.1:p.Trp558Ter | |
| ENST00000676053.1:c.1668G>A | ENSP00000502475.1:p.Trp556Ter | |
| ENST00000676091.1:c.1053G>A | ENSP00000502528.1:p.Trp351Ter | |
| ENST00000676165.1:n.3520G>A | ||
| ENST00000676258.1:n.3083G>A | ||
| ENST00000316534.8:c.2025G>A | ENSP00000313169.4:p.Trp675Ter | |
| ENST00000355301.8:c.1668G>A | ENSP00000347452.4:p.Trp556Ter | |
| ENST00000393272.7:c.2022G>A | ENSP00000376953.3:p.Trp674Ter | |
| ENST00000417665.5:c.1959G>A | ENSP00000402176.1:p.Trp653Ter | |
| ENST00000445609.6:c.1857G>A | ENSP00000389879.2:p.Trp619Ter | |
| ENST00000461707.5:n.3442G>A | ||
| ENST00000496524.5:n.9386G>A | ||
| NM_000272.3:c.2025G>A | NP_000263.2:p.Trp675Ter | |
| NM_001128178.1:c.1857G>A | NP_001121650.1:p.Trp619Ter | |
| NM_001128179.1:c.1668G>A | NP_001121651.1:p.Trp556Ter | |
| NM_207181.2:c.2022G>A | NP_997064.2:p.Trp674Ter | |
| XM_005263675.1:c.2127G>A | XP_005263732.1:p.Trp709Ter | |
| XM_005263676.1:c.1962G>A | XP_005263733.1:p.Trp654Ter | |
| XM_005263677.1:c.1959G>A | XP_005263734.1:p.Trp653Ter | |
| XM_005263678.2:c.*99G>A | XP_005263735.1:n.*99G>A | |
| XM_005263679.1:c.1854G>A | XP_005263736.1:p.Trp618Ter | |
| XM_006712551.1:c.2130G>A | XP_006712614.1:p.Trp710Ter | |
| XM_017004218.1:c.*99G>A | XP_016859707.1:n.*99G>A | |
| NM_000272.4:c.2025G>A | NP_000263.2:p.Trp675Ter | |
| NM_001128178.3:c.1857G>A MANE Select | NP_001121650.1:p.Trp619Ter | |
| NM_001128179.2:c.1668G>A | NP_001121651.1:p.Trp556Ter | |
| NM_001374256.1:c.1854G>A | NP_001361185.1:p.Trp618Ter | |
| NM_001374257.1:c.*99G>A | NP_001361186.1:n.*99G>A | |
| NM_207181.3:c.2022G>A | NP_997064.2:p.Trp674Ter | |
| NM_000272.5:c.2025G>A | NP_000263.2:p.Trp675Ter | |
| NM_001128179.3:c.1668G>A | NP_001121651.1:p.Trp556Ter | |
| NM_207181.4:c.2022G>A | NP_997064.2:p.Trp674Ter |