Linked Data
dbSNP Id:
rs544976637
ExAC:
1:115226821 T / C
gnomAD v2:
1-115226821-T-C
gnomAD v3:
1-114684200-T-C
gnomAD v4:
1-114684200-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114684200T>C , CM000663.2:g.114684200T>C | GRCh38 |
| NC_000001.10:g.115226821T>C , CM000663.1:g.115226821T>C | GRCh37 |
| NC_000001.9:g.115028344T>C | NCBI36 |
| NG_008012.1:g.16356A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.534A>G | ENSP00000358551.4:p.Pro178= | |
| ENST00000520113.7:c.546A>G MANE Select | ENSP00000430075.3:p.Pro182= | |
| ENST00000637080.1:c.549A>G | ENSP00000489753.1:p.Pro183= | |
| ENST00000639077.1:n.211A>G | ||
| ENST00000369538.3:c.633A>G | ENSP00000358551.3:p.Pro211= | |
| ENST00000485564.3:n.420A>G | ||
| ENST00000520113.6:c.645A>G | ENSP00000430075.2:p.Pro215= | |
| NM_000036.2:c.645A>G | NP_000027.2:p.Pro215= | |
| NM_001172626.1:c.633A>G | NP_001166097.1:p.Pro211= | |
| NM_000036.3:c.546A>G MANE Select | NP_000027.3:p.Pro182= | |
| NM_001172626.2:c.534A>G | NP_001166097.2:p.Pro178= |