Linked Data
ClinVar Variation Id:
1987038
ClinVar RCV Id:
RCV002770977
dbSNP Id:
rs1481703137
gnomAD v2:
16-3778938-C-T
gnomAD v4:
16-3728937-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728937C>T , CM000678.2:g.3728937C>T | GRCh38 |
| NC_000016.9:g.3778938C>T , CM000678.1:g.3778938C>T | GRCh37 |
| NC_000016.8:g.3718939C>T | NCBI36 |
| NG_009873.1:g.156184G>A | |
| NG_009873.2:g.156777G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6110G>A MANE Select | ENSP00000262367.5:p.Arg2037Lys | |
| ENST00000262367.9:c.6110G>A | ENSP00000262367.5:p.Arg2037Lys | |
| ENST00000382070.7:c.5996G>A | ENSP00000371502.3:p.Arg1999Lys | |
| NM_001079846.1:c.5996G>A | NP_001073315.1:p.Arg1999Lys | |
| NM_004380.2:c.6110G>A | NP_004371.2:p.Arg2037Lys | |
| XM_005255124.3:c.6065G>A | XP_005255181.1:p.Arg2022Lys | |
| XM_005255125.3:c.5693G>A | XP_005255182.1:p.Arg1898Lys | |
| XM_006720848.2:c.5849G>A | XP_006720911.1:p.Arg1950Lys | |
| XM_011522380.1:c.6056G>A | XP_011520682.1:p.Arg2019Lys | |
| XM_011522381.1:c.5357G>A | XP_011520683.1:p.Arg1786Lys | |
| XM_005255124.4:c.6065G>A | XP_005255181.1:p.Arg2022Lys | |
| XM_005255125.4:c.5693G>A | XP_005255182.1:p.Arg1898Lys | |
| XM_006720848.3:c.5849G>A | XP_006720911.1:p.Arg1950Lys | |
| XM_011522381.2:c.5357G>A | XP_011520683.1:p.Arg1786Lys | |
| XM_017022944.1:c.6104G>A | XP_016878433.1:p.Arg2035Lys | |
| NM_004380.3:c.6110G>A MANE Select | NP_004371.2:p.Arg2037Lys |