gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.0000586 (EAS)
Exomes Max Group AF
0.00006584 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25420739G>A , CM000663.2:g.25420739G>A | GRCh38 |
| NC_000001.10:g.25747230G>A , CM000663.1:g.25747230G>A | GRCh37 |
| NC_000001.9:g.25619817G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294413.13:c.48C>T MANE Select | ENSP00000294413.6:p.Cys16= | |
| ENST00000243186.10:c.48C>T | ENSP00000243186.7:p.Cys16= | |
| ENST00000294413.11:c.48C>T | ENSP00000294413.6:p.Cys16= | |
| ENST00000340849.8:c.48C>T | ENSP00000345084.4:p.Cys16= | |
| ENST00000346452.8:c.48C>T | ENSP00000344485.4:p.Cys16= | |
| ENST00000349320.7:c.-40+8214C>T | ENSP00000311185.4:n.-40+8214C>T | |
| ENST00000349438.8:c.48C>T | ENSP00000334570.5:p.Cys16= | |
| ENST00000374352.6:c.48C>T | ENSP00000363472.3:p.Cys16= | |
| ENST00000413854.5:c.48C>T | ENSP00000415417.2:p.Cys16= | |
| ENST00000495048.1:n.110C>T | ||
| ENST00000527187.5:n.203C>T | ||
| ENST00000533771.1:c.48C>T | ENSP00000435401.1:p.Cys16= | |
| XM_005245957.2:c.48C>T | XP_005246014.1:p.Cys16= | |
| XM_006710810.2:c.48C>T | XP_006710873.1:p.Cys16= | |
| XM_011541888.1:c.-117C>T | XP_011540190.1:n.-117C>T | |
| XM_011541889.1:c.19+9201C>T | XP_011540191.1:n.19+9201C>T | |
| XM_011541890.1:c.48C>T | XP_011540192.1:p.Cys16= | |
| XM_011541891.1:c.-21+8214C>T | XP_011540193.1:n.-21+8214C>T | |
| XM_005245957.4:c.48C>T | XP_005246014.1:p.Cys16= | |
| XM_006710810.3:c.48C>T | XP_006710873.1:p.Cys16= | |
| XM_011541888.3:c.-117C>T | XP_011540190.1:n.-117C>T | |
| XM_011541889.3:c.253+9201C>T | XP_011540191.2:n.253+9201C>T | |
| XM_011541891.3:c.-21+8214C>T | XP_011540193.1:n.-21+8214C>T | |
| XM_017002014.2:c.48C>T | XP_016857503.1:p.Cys16= | |
| NM_020485.8:c.48C>T MANE Select | NP_065231.4:p.Cys16= |