gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001746 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37045483A>C , CM000667.2:g.37045483A>C | GRCh38 |
| NC_000005.9:g.37045585A>C , CM000667.1:g.37045585A>C | GRCh37 |
| NC_000005.8:g.37081342A>C | NCBI36 |
| NG_006987.1:g.173601A>C | |
| NG_006987.2:g.173601A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.6384A>C MANE Select | ENSP00000282516.8:p.Pro2128= | |
| ENST00000652901.1:c.6384A>C | ENSP00000499536.1:p.Pro2128= | |
| ENST00000282516.12:c.6384A>C | ENSP00000282516.8:p.Pro2128= | |
| ENST00000448238.2:c.6384A>C | ENSP00000406266.2:p.Pro2128= | |
| ENST00000621733.1:c.1-19095A>C | ENSP00000480694.1:n.1-19095A>C | |
| NM_015384.4:c.6384A>C | NP_056199.2:p.Pro2128= | |
| NM_133433.3:c.6384A>C | NP_597677.2:p.Pro2128= | |
| XM_005248280.2:c.6384A>C | XP_005248337.1:p.Pro2128= | |
| XM_005248282.3:c.5640A>C | XP_005248339.2:p.Pro1880= | |
| XM_006714467.2:c.6384A>C | XP_006714530.1:p.Pro2128= | |
| XM_006714468.1:c.6186A>C | XP_006714531.1:p.Pro2062= | |
| XM_011514014.1:c.6003A>C | XP_011512316.1:p.Pro2001= | |
| XM_011514015.1:c.6384A>C | XP_011512317.1:p.Pro2128= | |
| XM_005248280.3:c.6384A>C | XP_005248337.1:p.Pro2128= | |
| XM_005248282.5:c.5724A>C | XP_005248339.3:p.Pro1908= | |
| XM_006714468.2:c.6186A>C | XP_006714531.1:p.Pro2062= | |
| XM_017009329.1:c.6384A>C | XP_016864818.1:p.Pro2128= | |
| XM_017009330.2:c.4767A>C | XP_016864819.1:p.Pro1589= | |
| XM_017009331.1:c.4758A>C | XP_016864820.1:p.Pro1586= | |
| NM_133433.4:c.6384A>C MANE Select | NP_597677.2:p.Pro2128= | |
| NM_015384.5:c.6384A>C | NP_056199.2:p.Pro2128= |