Linked Data
dbSNP Id:
rs1348803364
gnomAD v2:
20-31024605-G-C
gnomAD v4:
20-32436802-G-C
COSMIC:
COSM1133044
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32436802G>C , CM000682.2:g.32436802G>C | GRCh38 |
| NC_000020.10:g.31024605G>C , CM000682.1:g.31024605G>C | GRCh37 |
| NC_000020.9:g.30488266G>C | NCBI36 |
| NG_027868.1:g.83459G>C , LRG_630:g.83459G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.4090G>C MANE Select | ENSP00000364839.4:p.Val1364Leu | |
| ENST00000646985.1:c.3907G>C | ENSP00000495053.1:p.Val1303Leu | |
| ENST00000647223.1:n.6443G>C | ||
| ENST00000651418.1:c.1870-1628G>C | ENSP00000499150.1:n.1870-1628G>C | |
| ENST00000306058.9:c.4075G>C | ENSP00000305119.5:p.Val1359Leu | |
| ENST00000375687.8:c.4090G>C | ENSP00000364839.4:p.Val1364Leu | |
| ENST00000613218.4:c.4090G>C | ENSP00000480487.1:p.Val1364Leu | |
| ENST00000620121.4:c.4090G>C | ENSP00000481978.1:p.Val1364Leu | |
| NM_015338.5:c.4090G>C , LRG_630t1:c.4090G>C | NP_056153.2:p.Val1364Leu | |
| XM_006723727.2:c.4087G>C | XP_006723790.1:p.Val1363Leu | |
| XM_006723728.2:c.4060G>C | XP_006723791.1:p.Val1354Leu | |
| XM_006723730.2:c.4006G>C | XP_006723793.1:p.Val1336Leu | |
| XM_006723732.2:c.3907G>C | XP_006723795.1:p.Val1303Leu | |
| XM_006723733.1:c.3406G>C | XP_006723796.1:p.Val1136Leu | |
| XM_011528647.1:c.4354G>C | XP_011526949.1:p.Val1452Leu | |
| XM_011528648.1:c.4351G>C | XP_011526950.1:p.Val1451Leu | |
| XM_011528649.1:c.4270G>C | XP_011526951.1:p.Val1424Leu | |
| XM_011528650.1:c.4201G>C | XP_011526952.1:p.Val1401Leu | |
| XM_011528651.1:c.4069G>C | XP_011526953.1:p.Val1357Leu | |
| XM_011528652.1:c.4006G>C | XP_011526954.1:p.Val1336Leu | |
| NM_001363734.1:c.3907G>C | NP_001350663.1:p.Val1303Leu | |
| XM_006723727.3:c.4087G>C | XP_006723790.1:p.Val1363Leu | |
| XM_006723728.3:c.4060G>C | XP_006723791.1:p.Val1354Leu | |
| XM_006723730.4:c.4006G>C | XP_006723793.1:p.Val1336Leu | |
| XM_011528648.3:c.4351G>C | XP_011526950.1:p.Val1451Leu | |
| XM_011528652.2:c.4006G>C | XP_011526954.1:p.Val1336Leu | |
| XM_017027704.1:c.4006G>C | XP_016883193.1:p.Val1336Leu | |
| XM_017027705.1:c.4006G>C | XP_016883194.1:p.Val1336Leu | |
| XM_017027706.1:c.3937G>C | XP_016883195.1:p.Val1313Leu | |
| NM_015338.6:c.4090G>C MANE Select | NP_056153.2:p.Val1364Leu |