Linked Data
ClinVar Variation Id:
1741281
dbSNP Id:
rs372936553
ExAC:
16:3786681 C / A
gnomAD v2:
16-3786681-C-A
gnomAD v3:
16-3736680-C-A
gnomAD v4:
16-3736680-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3736680C>A , CM000678.2:g.3736680C>A | GRCh38 |
| NC_000016.9:g.3786681C>A , CM000678.1:g.3786681C>A | GRCh37 |
| NC_000016.8:g.3726682C>A | NCBI36 |
| NG_009873.1:g.148441G>T | |
| NG_009873.2:g.149034G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.4530G>T MANE Select | ENSP00000262367.5:p.Ala1510= | |
| ENST00000262367.9:c.4530G>T | ENSP00000262367.5:p.Ala1510= | |
| ENST00000382070.7:c.4416G>T | ENSP00000371502.3:p.Ala1472= | |
| ENST00000570939.2:c.3165G>T | ENSP00000461002.2:p.Ala1055= | |
| ENST00000571763.5:n.320G>T | ||
| ENST00000574740.1:n.351G>T | ||
| ENST00000576720.1:n.3353G>T | ||
| NM_001079846.1:c.4416G>T | NP_001073315.1:p.Ala1472= | |
| NM_004380.2:c.4530G>T | NP_004371.2:p.Ala1510= | |
| XM_005255124.3:c.4485G>T | XP_005255181.1:p.Ala1495= | |
| XM_005255125.3:c.4113G>T | XP_005255182.1:p.Ala1371= | |
| XM_006720848.2:c.4269G>T | XP_006720911.1:p.Ala1423= | |
| XM_011522380.1:c.4476G>T | XP_011520682.1:p.Ala1492= | |
| XM_011522381.1:c.3777G>T | XP_011520683.1:p.Ala1259= | |
| XM_005255124.4:c.4485G>T | XP_005255181.1:p.Ala1495= | |
| XM_005255125.4:c.4113G>T | XP_005255182.1:p.Ala1371= | |
| XM_006720848.3:c.4269G>T | XP_006720911.1:p.Ala1423= | |
| XM_011522381.2:c.3777G>T | XP_011520683.1:p.Ala1259= | |
| XM_017022944.1:c.4524G>T | XP_016878433.1:p.Ala1508= | |
| NM_004380.3:c.4530G>T MANE Select | NP_004371.2:p.Ala1510= |