Linked Data
dbSNP Id:
rs772791992
ExAC:
18:50432616 G / C
gnomAD v2:
18-50432616-G-C
gnomAD v3:
18-52906246-G-C
gnomAD v4:
18-52906246-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.52906246G>C , CM000680.2:g.52906246G>C | GRCh38 |
| NC_000018.9:g.50432616G>C , CM000680.1:g.50432616G>C | GRCh37 |
| NC_000018.8:g.48686614G>C | NCBI36 |
| NG_013341.1:g.571075G>C | |
| NG_013341.2:g.571075G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442544.7:c.615G>C MANE Select | ENSP00000389140.2:p.Gly205= | |
| ENST00000304775.12:c.416G>C | ||
| ENST00000412726.5:c.546G>C | ENSP00000397322.2:p.Gly182= | |
| ENST00000442544.6:c.615G>C | ENSP00000389140.2:p.Gly205= | |
| ENST00000579349.1:c.536G>C | ||
| ENST00000580024.1:n.528G>C | ||
| ENST00000581559.1:c.536G>C | ENSP00000463463.1:n.536G>C | |
| NM_005215.3:c.615G>C | NP_005206.2:p.Gly205= | |
| XM_011525843.1:c.615G>C | XP_011524145.1:p.Gly205= | |
| XM_011525845.1:c.615G>C | XP_011524147.1:p.Gly205= | |
| XM_011525846.1:c.615G>C | XP_011524148.1:p.Gly205= | |
| XM_017025568.1:c.615G>C | XP_016881057.1:p.Gly205= | |
| XM_017025569.1:c.615G>C | XP_016881058.1:p.Gly205= | |
| NM_005215.4:c.615G>C MANE Select | NP_005206.2:p.Gly205= |