Linked Data
dbSNP Id:
rs2151299727
COSMIC:
COSM2919895
MyVariant Identifiers:
chr16:g.3778016C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728015C>T , CM000678.2:g.3728015C>T | GRCh38 |
| NC_000016.9:g.3778016C>T , CM000678.1:g.3778016C>T | GRCh37 |
| NC_000016.8:g.3718017C>T | NCBI36 |
| NG_009873.1:g.157106G>A | |
| NG_009873.2:g.157699G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.7032G>A MANE Select | ENSP00000262367.5:p.Arg2344= | |
| ENST00000262367.9:c.7032G>A | ENSP00000262367.5:p.Arg2344= | |
| ENST00000382070.7:c.6918G>A | ENSP00000371502.3:p.Arg2306= | |
| NM_001079846.1:c.6918G>A | NP_001073315.1:p.Arg2306= | |
| NM_004380.2:c.7032G>A | NP_004371.2:p.Arg2344= | |
| XM_005255124.3:c.6987G>A | XP_005255181.1:p.Arg2329= | |
| XM_005255125.3:c.6615G>A | XP_005255182.1:p.Arg2205= | |
| XM_006720848.2:c.6771G>A | XP_006720911.1:p.Arg2257= | |
| XM_011522380.1:c.6978G>A | XP_011520682.1:p.Arg2326= | |
| XM_011522381.1:c.6279G>A | XP_011520683.1:p.Arg2093= | |
| XM_005255124.4:c.6987G>A | XP_005255181.1:p.Arg2329= | |
| XM_005255125.4:c.6615G>A | XP_005255182.1:p.Arg2205= | |
| XM_006720848.3:c.6771G>A | XP_006720911.1:p.Arg2257= | |
| XM_011522381.2:c.6279G>A | XP_011520683.1:p.Arg2093= | |
| XM_017022944.1:c.7026G>A | XP_016878433.1:p.Arg2342= | |
| NM_004380.3:c.7032G>A MANE Select | NP_004371.2:p.Arg2344= |