Linked Data
ClinVar Variation Id:
95031
dbSNP Id:
rs398124142
ExAC:
16:3828013 T / C
gnomAD v2:
16-3828013-T-C
gnomAD v3:
16-3778012-T-C
gnomAD v4:
16-3778012-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3778012T>C , CM000678.2:g.3778012T>C | GRCh38 |
| NC_000016.9:g.3828013T>C , CM000678.1:g.3828013T>C | GRCh37 |
| NC_000016.8:g.3768014T>C | NCBI36 |
| NG_009873.1:g.107109A>G | |
| NG_009873.2:g.107702A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.2112A>G MANE Select | ENSP00000262367.5:p.Pro704= | |
| ENST00000262367.9:c.2112A>G | ENSP00000262367.5:p.Pro704= | |
| ENST00000382070.7:c.1998A>G | ENSP00000371502.3:p.Pro666= | |
| ENST00000570939.2:c.717A>G | ENSP00000461002.2:p.Pro239= | |
| ENST00000571826.5:c.161A>G | ||
| ENST00000572134.1:c.425A>G | ||
| ENST00000634839.1:n.274A>G | ||
| NM_001079846.1:c.1998A>G | NP_001073315.1:p.Pro666= | |
| NM_004380.2:c.2112A>G | NP_004371.2:p.Pro704= | |
| XM_005255124.3:c.2112A>G | XP_005255181.1:p.Pro704= | |
| XM_005255125.3:c.2112A>G | XP_005255182.1:p.Pro704= | |
| XM_006720848.2:c.2112A>G | XP_006720911.1:p.Pro704= | |
| XM_011522380.1:c.2058A>G | XP_011520682.1:p.Pro686= | |
| XM_011522381.1:c.1359A>G | XP_011520683.1:p.Pro453= | |
| XM_011522382.1:c.2112A>G | XP_011520684.1:p.Pro704= | |
| XM_005255124.4:c.2112A>G | XP_005255181.1:p.Pro704= | |
| XM_005255125.4:c.2112A>G | XP_005255182.1:p.Pro704= | |
| XM_006720848.3:c.2112A>G | XP_006720911.1:p.Pro704= | |
| XM_011522381.2:c.1359A>G | XP_011520683.1:p.Pro453= | |
| XM_011522382.3:c.2112A>G | XP_011520684.1:p.Pro704= | |
| XM_017022944.1:c.2112A>G | XP_016878433.1:p.Pro704= | |
| NM_004380.3:c.2112A>G MANE Select | NP_004371.2:p.Pro704= |