Linked Data
ClinVar Variation Id:
3030138
ClinVar RCV Id:
RCV003899383
dbSNP Id:
rs537609194
ExAC:
16:3779204 C / T
gnomAD v2:
16-3779204-C-T
gnomAD v3:
16-3729203-C-T
gnomAD v4:
16-3729203-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729203C>T , CM000678.2:g.3729203C>T | GRCh38 |
| NC_000016.9:g.3779204C>T , CM000678.1:g.3779204C>T | GRCh37 |
| NC_000016.8:g.3719205C>T | NCBI36 |
| NG_009873.1:g.155918G>A | |
| NG_009873.2:g.156511G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5844G>A MANE Select | ENSP00000262367.5:p.Pro1948= | |
| ENST00000262367.9:c.5844G>A | ENSP00000262367.5:p.Pro1948= | |
| ENST00000382070.7:c.5730G>A | ENSP00000371502.3:p.Pro1910= | |
| NM_001079846.1:c.5730G>A | NP_001073315.1:p.Pro1910= | |
| NM_004380.2:c.5844G>A | NP_004371.2:p.Pro1948= | |
| XM_005255124.3:c.5799G>A | XP_005255181.1:p.Pro1933= | |
| XM_005255125.3:c.5427G>A | XP_005255182.1:p.Pro1809= | |
| XM_006720848.2:c.5583G>A | XP_006720911.1:p.Pro1861= | |
| XM_011522380.1:c.5790G>A | XP_011520682.1:p.Pro1930= | |
| XM_011522381.1:c.5091G>A | XP_011520683.1:p.Pro1697= | |
| XM_005255124.4:c.5799G>A | XP_005255181.1:p.Pro1933= | |
| XM_005255125.4:c.5427G>A | XP_005255182.1:p.Pro1809= | |
| XM_006720848.3:c.5583G>A | XP_006720911.1:p.Pro1861= | |
| XM_011522381.2:c.5091G>A | XP_011520683.1:p.Pro1697= | |
| XM_017022944.1:c.5838G>A | XP_016878433.1:p.Pro1946= | |
| NM_004380.3:c.5844G>A MANE Select | NP_004371.2:p.Pro1948= |