Linked Data
ClinVar Variation Id:
2728205
ClinVar RCV Id:
RCV003595470
dbSNP Id:
rs765415312
ExAC:
16:3778917 G / A
gnomAD v2:
16-3778917-G-A
gnomAD v3:
16-3728916-G-A
gnomAD v4:
16-3728916-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3728916G>A , CM000678.2:g.3728916G>A | GRCh38 |
| NC_000016.9:g.3778917G>A , CM000678.1:g.3778917G>A | GRCh37 |
| NC_000016.8:g.3718918G>A | NCBI36 |
| NG_009873.1:g.156205C>T | |
| NG_009873.2:g.156798C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.6131C>T MANE Select | ENSP00000262367.5:p.Ala2044Val | |
| ENST00000262367.9:c.6131C>T | ENSP00000262367.5:p.Ala2044Val | |
| ENST00000382070.7:c.6017C>T | ENSP00000371502.3:p.Ala2006Val | |
| NM_001079846.1:c.6017C>T | NP_001073315.1:p.Ala2006Val | |
| NM_004380.2:c.6131C>T | NP_004371.2:p.Ala2044Val | |
| XM_005255124.3:c.6086C>T | XP_005255181.1:p.Ala2029Val | |
| XM_005255125.3:c.5714C>T | XP_005255182.1:p.Ala1905Val | |
| XM_006720848.2:c.5870C>T | XP_006720911.1:p.Ala1957Val | |
| XM_011522380.1:c.6077C>T | XP_011520682.1:p.Ala2026Val | |
| XM_011522381.1:c.5378C>T | XP_011520683.1:p.Ala1793Val | |
| XM_005255124.4:c.6086C>T | XP_005255181.1:p.Ala2029Val | |
| XM_005255125.4:c.5714C>T | XP_005255182.1:p.Ala1905Val | |
| XM_006720848.3:c.5870C>T | XP_006720911.1:p.Ala1957Val | |
| XM_011522381.2:c.5378C>T | XP_011520683.1:p.Ala1793Val | |
| XM_017022944.1:c.6125C>T | XP_016878433.1:p.Ala2042Val | |
| NM_004380.3:c.6131C>T MANE Select | NP_004371.2:p.Ala2044Val |