Linked Data
dbSNP Id:
rs755351979
ExAC:
18:50432612 C / G
gnomAD v2:
18-50432612-C-G
gnomAD v4:
18-52906242-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.52906242C>G , CM000680.2:g.52906242C>G | GRCh38 |
| NC_000018.9:g.50432612C>G , CM000680.1:g.50432612C>G | GRCh37 |
| NC_000018.8:g.48686610C>G | NCBI36 |
| NG_013341.1:g.571071C>G | |
| NG_013341.2:g.571071C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442544.7:c.611C>G MANE Select | ENSP00000389140.2:p.Pro204Arg | |
| ENST00000304775.12:c.412C>G | ||
| ENST00000412726.5:c.542C>G | ENSP00000397322.2:p.Pro181Arg | |
| ENST00000442544.6:c.611C>G | ENSP00000389140.2:p.Pro204Arg | |
| ENST00000579349.1:c.532C>G | ||
| ENST00000580024.1:n.524C>G | ||
| ENST00000581559.1:c.532C>G | ENSP00000463463.1:n.532C>G | |
| NM_005215.3:c.611C>G | NP_005206.2:p.Pro204Arg | |
| XM_011525843.1:c.611C>G | XP_011524145.1:p.Pro204Arg | |
| XM_011525845.1:c.611C>G | XP_011524147.1:p.Pro204Arg | |
| XM_011525846.1:c.611C>G | XP_011524148.1:p.Pro204Arg | |
| XM_017025568.1:c.611C>G | XP_016881057.1:p.Pro204Arg | |
| XM_017025569.1:c.611C>G | XP_016881058.1:p.Pro204Arg | |
| NM_005215.4:c.611C>G MANE Select | NP_005206.2:p.Pro204Arg |