Linked Data
dbSNP Id:
rs762100810
ExAC:
10:69926330 C / G
gnomAD v2:
10-69926330-C-G
gnomAD v4:
10-68166573-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68166573C>G , CM000672.2:g.68166573C>G | GRCh38 |
| NC_000010.10:g.69926330C>G , CM000672.1:g.69926330C>G | GRCh37 |
| NC_000010.9:g.69596336C>G | NCBI36 |
| NG_032118.1:g.65457C>G , LRG_410:g.65457C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.1055C>G | ENSP00000346369.2:p.Ser352Cys | |
| ENST00000373675.4:c.1880C>G | ENSP00000362779.4:p.Ser627Cys | |
| ENST00000540630.6:c.1934C>G | ENSP00000441668.3:p.Ser645Cys | |
| ENST00000613327.5:c.1880C>G | ENSP00000480757.2:p.Ser627Cys | |
| ENST00000687572.1:c.758C>G | ENSP00000510427.1:p.Ser253Cys | |
| ENST00000688812.1:c.1856C>G | ENSP00000510658.1:p.Ser619Cys | |
| ENST00000690544.1:c.*1151C>G | ENSP00000508989.1:n.*1151C>G | |
| ENST00000358913.10:c.1880C>G MANE Select | ENSP00000351790.5:p.Ser627Cys | |
| ENST00000354393.6:c.1055C>G | ENSP00000346369.2:p.Ser352Cys | |
| ENST00000358913.9:c.1880C>G | ENSP00000351790.5:p.Ser627Cys | |
| ENST00000540630.5:c.1880C>G | ENSP00000441668.2:p.Ser627Cys | |
| ENST00000613327.4:c.998C>G | ENSP00000480757.1:p.Ser333Cys | |
| NM_001256267.1:c.1880C>G | NP_001243196.1:p.Ser627Cys | |
| NM_001256268.1:c.998C>G | NP_001243197.1:p.Ser333Cys | |
| NM_032578.3:c.1880C>G , LRG_410t1:c.1880C>G | NP_115967.2:p.Ser627Cys | |
| NR_045662.3:n.1307C>G | ||
| NR_045663.3:n.2148C>G | ||
| XM_006718043.2:c.1934C>G | XP_006718106.1:p.Ser645Cys | |
| XM_011540292.1:c.1910C>G | XP_011538594.1:p.Ser637Cys | |
| XM_017016833.1:c.1958C>G | XP_016872322.1:p.Ser653Cys | |
| XM_017016834.2:c.1880C>G | XP_016872323.1:p.Ser627Cys | |
| XM_024448236.1:c.758C>G | XP_024304004.1:p.Ser253Cys | |
| NR_045662.4:n.1417C>G | ||
| NR_045663.4:n.2093C>G | ||
| NM_001256267.2:c.1880C>G | NP_001243196.1:p.Ser627Cys | |
| NM_001256268.2:c.998C>G | NP_001243197.1:p.Ser333Cys | |
| NM_032578.4:c.1880C>G MANE Select | NP_115967.2:p.Ser627Cys |