Linked Data
ClinVar Variation Id:
219983
dbSNP Id:
rs144850331
ExAC:
2:110881452 C / T
gnomAD v2:
2-110881452-C-T
gnomAD v3:
2-110123875-C-T
gnomAD v4:
2-110123875-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.110123875C>T , CM000664.2:g.110123875C>T | GRCh38 |
| NC_000002.11:g.110881452C>T , CM000664.1:g.110881452C>T | GRCh37 |
| NC_000002.10:g.110238741C>T | NCBI36 |
| NG_008287.1:g.86188G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445609.7:c.1950G>A MANE Select | ENSP00000389879.3:p.Leu650= | |
| ENST00000674677.1:c.3568G>A | ENSP00000502265.1:n.3568G>A | |
| ENST00000675067.1:c.1149G>A | ENSP00000502817.1:p.Leu383= | |
| ENST00000675294.1:n.6199G>A | ||
| ENST00000675356.1:n.2628G>A | ||
| ENST00000675632.1:n.3354G>A | ||
| ENST00000675752.1:n.3788G>A | ||
| ENST00000676028.1:c.1767G>A | ENSP00000502639.1:p.Leu589= | |
| ENST00000676053.1:c.1761G>A | ENSP00000502475.1:p.Leu587= | |
| ENST00000676091.1:c.1146G>A | ENSP00000502528.1:p.Leu382= | |
| ENST00000676165.1:n.3613G>A | ||
| ENST00000316534.8:c.2118G>A | ENSP00000313169.4:p.Leu706= | |
| ENST00000355301.8:c.1761G>A | ENSP00000347452.4:p.Leu587= | |
| ENST00000393272.7:c.2115G>A | ENSP00000376953.3:p.Leu705= | |
| ENST00000417665.5:c.2052G>A | ENSP00000402176.1:p.Leu684= | |
| ENST00000445609.6:c.1950G>A | ENSP00000389879.2:p.Leu650= | |
| ENST00000461707.5:n.3535G>A | ||
| ENST00000496524.5:n.9479G>A | ||
| NM_000272.3:c.2118G>A | NP_000263.2:p.Leu706= | |
| NM_001128178.1:c.1950G>A | NP_001121650.1:p.Leu650= | |
| NM_001128179.1:c.1761G>A | NP_001121651.1:p.Leu587= | |
| NM_207181.2:c.2115G>A | NP_997064.2:p.Leu705= | |
| XM_005263675.1:c.2220G>A | XP_005263732.1:p.Leu740= | |
| XM_005263676.1:c.2055G>A | XP_005263733.1:p.Leu685= | |
| XM_005263677.1:c.2052G>A | XP_005263734.1:p.Leu684= | |
| XM_005263678.2:c.*192G>A | XP_005263735.1:n.*192G>A | |
| XM_005263679.1:c.1947G>A | XP_005263736.1:p.Leu649= | |
| XM_006712551.1:c.2223G>A | XP_006712614.1:p.Leu741= | |
| XM_017004218.1:c.*192G>A | XP_016859707.1:n.*192G>A | |
| NM_000272.4:c.2118G>A | NP_000263.2:p.Leu706= | |
| NM_001128178.3:c.1950G>A MANE Select | NP_001121650.1:p.Leu650= | |
| NM_001128179.2:c.1761G>A | NP_001121651.1:p.Leu587= | |
| NM_001374256.1:c.1947G>A | NP_001361185.1:p.Leu649= | |
| NM_001374257.1:c.*192G>A | NP_001361186.1:n.*192G>A | |
| NM_207181.3:c.2115G>A | NP_997064.2:p.Leu705= | |
| NM_000272.5:c.2118G>A | NP_000263.2:p.Leu706= | |
| NM_001128179.3:c.1761G>A | NP_001121651.1:p.Leu587= | |
| NM_207181.4:c.2115G>A | NP_997064.2:p.Leu705= |