gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005793 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00005711 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31226611G>C , CM000679.2:g.31226611G>C | GRCh38 |
| NC_000017.10:g.29553629G>C , CM000679.1:g.29553629G>C | GRCh37 |
| NC_000017.9:g.26577755G>C | NCBI36 |
| NG_009018.1:g.136635G>C , LRG_214:g.136635G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.2223G>C | ENSP00000512431.1:p.Val741= | |
| ENST00000691014.1:c.2208G>C | ENSP00000510595.1:p.Val736= | |
| ENST00000358273.9:c.2178G>C MANE Select | ENSP00000351015.4:p.Val726= | |
| ENST00000356175.7:c.2178G>C | ENSP00000348498.3:p.Val726= | |
| ENST00000358273.8:c.2178G>C | ENSP00000351015.4:p.Val726= | |
| ENST00000456735.6:c.1176G>C | ENSP00000389907.2:p.Val392= | |
| ENST00000493220.5:n.345G>C | ||
| ENST00000495910.6:c.1953G>C | ||
| ENST00000579081.5:c.2280G>C | ENSP00000462408.1:p.Val760= | |
| NM_000267.3:c.2178G>C , LRG_214t1:c.2178G>C | NP_000258.1:p.Val726= | |
| NM_001042492.2:c.2178G>C , LRG_214t2:c.2178G>C | NP_001035957.1:p.Val726= | |
| XM_005257983.1:c.2178G>C | XP_005258040.1:p.Val726= | |
| XM_005257984.1:c.2178G>C | XP_005258041.1:p.Val726= | |
| XM_006721922.1:c.2208G>C | XP_006721985.1:p.Val736= | |
| XM_006721923.2:c.2169G>C | XP_006721986.1:p.Val723= | |
| XM_006721924.1:c.2208G>C | XP_006721987.1:p.Val736= | |
| XM_006721925.1:c.2208G>C | XP_006721988.1:p.Val736= | |
| XM_006721926.2:c.2208G>C | XP_006721989.1:p.Val736= | |
| XM_006721927.1:c.2208G>C | XP_006721990.1:p.Val736= | |
| XM_006721928.2:c.2208G>C | XP_006721991.1:p.Val736= | |
| XM_011524852.1:c.2205G>C | XP_011523154.1:p.Val735= | |
| XM_011524853.1:c.2169G>C | XP_011523155.1:p.Val723= | |
| XM_011524854.1:c.2169G>C | XP_011523156.1:p.Val723= | |
| XM_011524855.1:c.2169G>C | XP_011523157.1:p.Val723= | |
| XM_011524856.1:c.2169G>C | XP_011523158.1:p.Val723= | |
| XM_011524857.1:c.2208G>C | XP_011523159.1:p.Val736= | |
| NM_001042492.3:c.2178G>C MANE Select | NP_001035957.1:p.Val726= |