ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003666 (NFE)
Exomes Max Group AF
0.00003804 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6623016G>A , CM000679.2:g.6623016G>A | GRCh38 |
| NC_000017.10:g.6526336G>A , CM000679.1:g.6526336G>A | GRCh37 |
| NC_000017.9:g.6467060G>A | NCBI36 |
| NG_054885.1:g.22912C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634965.3:c.*1920C>T | ENSP00000499350.1:n.*1920C>T | |
| ENST00000361413.8:c.970C>T MANE Select | ENSP00000355250.3:p.Arg324Ter | |
| ENST00000361413.7:c.970C>T | ENSP00000355250.3:p.Arg324Ter | |
| ENST00000570790.5:c.*116C>T | ENSP00000460816.1:n.*116C>T | |
| ENST00000572235.1:c.648C>T | ENSP00000459530.1:n.648C>T | |
| ENST00000572370.5:c.73C>T | ENSP00000460050.1:p.Arg25Ter | |
| NM_014804.2:c.970C>T | NP_055619.2:p.Arg324Ter | |
| XM_006721611.1:c.970C>T | XP_006721674.1:p.Arg324Ter | |
| XM_006721612.1:c.73C>T | XP_006721675.1:p.Arg25Ter | |
| XM_011524090.1:c.970C>T | XP_011522392.1:p.Arg324Ter | |
| XM_011524091.1:c.970C>T | XP_011522393.1:p.Arg324Ter | |
| XM_011524092.1:c.970C>T | XP_011522394.1:p.Arg324Ter | |
| XM_011524093.1:c.970C>T | XP_011522395.1:p.Arg324Ter | |
| XM_011524094.1:c.970C>T | XP_011522396.1:p.Arg324Ter | |
| XM_011524095.1:c.970C>T | XP_011522397.1:p.Arg324Ter | |
| XM_011524096.1:c.970C>T | XP_011522398.1:p.Arg324Ter | |
| XM_011524097.1:c.970C>T | XP_011522399.1:p.Arg324Ter | |
| XM_011524098.1:c.73C>T | XP_011522400.1:p.Arg25Ter | |
| XM_011524099.1:c.73C>T | XP_011522401.1:p.Arg25Ter | |
| XM_011524100.1:c.73C>T | XP_011522402.1:p.Arg25Ter | |
| XR_934126.1:n.1329C>T | ||
| NM_001351225.1:c.73C>T | NP_001338154.1:p.Arg25Ter | |
| NR_147086.1:n.1222C>T | ||
| NR_147087.1:n.1559C>T | ||
| NR_147088.1:n.1666C>T | ||
| XM_006721612.2:c.73C>T | XP_006721675.1:p.Arg25Ter | |
| XM_011524090.3:c.970C>T | XP_011522392.1:p.Arg324Ter | |
| XM_011524091.2:c.970C>T | XP_011522393.1:p.Arg324Ter | |
| XM_011524095.2:c.970C>T | XP_011522397.1:p.Arg324Ter | |
| XM_011524096.2:c.970C>T | XP_011522398.1:p.Arg324Ter | |
| XM_011524098.2:c.73C>T | XP_011522400.1:p.Arg25Ter | |
| XM_011524099.2:c.73C>T | XP_011522401.1:p.Arg25Ter | |
| XM_011524100.3:c.73C>T | XP_011522402.1:p.Arg25Ter | |
| XM_017025455.2:c.970C>T | XP_016880944.1:p.Arg324Ter | |
| XR_001752707.2:n.1132C>T | ||
| XR_001752708.2:n.1132C>T | ||
| XR_001752709.2:n.1132C>T | ||
| XR_934126.2:n.1132C>T | ||
| NM_014804.3:c.970C>T MANE Select | NP_055619.2:p.Arg324Ter | |
| NM_001351225.2:c.73C>T | NP_001338154.1:p.Arg25Ter | |
| NR_147086.2:n.1006C>T | ||
| NR_147087.2:n.1343C>T | ||
| NR_147088.2:n.1450C>T |