Linked Data
dbSNP Id:
rs2053518337
gnomAD v3:
16-3792018-G-A
gnomAD v4:
16-3792018-G-A
COSMIC:
COSM4412648
MyVariant Identifiers:
chr16:g.3842019G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3792018G>A , CM000678.2:g.3792018G>A | GRCh38 |
| NC_000016.9:g.3842019G>A , CM000678.1:g.3842019G>A | GRCh37 |
| NC_000016.8:g.3782020G>A | NCBI36 |
| NG_009873.1:g.93103C>T | |
| NG_009873.2:g.93696C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.1293C>T MANE Select | ENSP00000262367.5:p.Leu431= | |
| ENST00000262367.9:c.1293C>T | ENSP00000262367.5:p.Leu431= | |
| ENST00000382070.7:c.1216+1368C>T | ENSP00000371502.3:n.1216+1368C>T | |
| NM_001079846.1:c.1216+1368C>T | NP_001073315.1:n.1216+1368C>T | |
| NM_004380.2:c.1293C>T | NP_004371.2:p.Leu431= | |
| XM_005255124.3:c.1293C>T | XP_005255181.1:p.Leu431= | |
| XM_005255125.3:c.1293C>T | XP_005255182.1:p.Leu431= | |
| XM_006720848.2:c.1293C>T | XP_006720911.1:p.Leu431= | |
| XM_011522380.1:c.1239C>T | XP_011520682.1:p.Leu413= | |
| XM_011522381.1:c.540C>T | XP_011520683.1:p.Leu180= | |
| XM_011522382.1:c.1293C>T | XP_011520684.1:p.Leu431= | |
| XM_005255124.4:c.1293C>T | XP_005255181.1:p.Leu431= | |
| XM_005255125.4:c.1293C>T | XP_005255182.1:p.Leu431= | |
| XM_006720848.3:c.1293C>T | XP_006720911.1:p.Leu431= | |
| XM_011522381.2:c.540C>T | XP_011520683.1:p.Leu180= | |
| XM_011522382.3:c.1293C>T | XP_011520684.1:p.Leu431= | |
| XM_017022944.1:c.1293C>T | XP_016878433.1:p.Leu431= | |
| NM_004380.3:c.1293C>T MANE Select | NP_004371.2:p.Leu431= |