gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34113668 (NFE)
Genomes Max Group AF
0.33137624 (NFE)
Exomes Max Group AF
0.34154504 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161047766C>T , CM000663.2:g.161047766C>T | GRCh38 |
| NC_000001.10:g.161017556C>T , CM000663.1:g.161017556C>T | GRCh37 |
| NC_000001.9:g.159284180C>T | NCBI36 |
| NG_011612.1:g.3202G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368013.8:c.3255G>A MANE Select | ENSP00000356992.3:p.Arg1085= | |
| ENST00000368013.7:c.3255G>A | ENSP00000356992.3:p.Arg1085= | |
| ENST00000368015.1:c.2724G>A | ENSP00000356994.1:p.Arg908= | |
| ENST00000368016.7:c.2622G>A | ENSP00000356995.3:p.Arg874= | |
| ENST00000461003.5:n.4037G>A | ||
| NM_001025598.1:c.3255G>A | NP_001020769.1:p.Arg1085= | |
| NM_001287600.1:c.2811G>A | NP_001274529.1:p.Arg937= | |
| NM_001287602.1:c.2724G>A | NP_001274531.1:p.Arg908= | |
| NM_181720.2:c.2622G>A | NP_859071.2:p.Arg874= | |
| XM_005245070.2:c.3084G>A | XP_005245127.1:p.Arg1028= | |
| XM_005245071.3:c.2811G>A | XP_005245128.1:p.Arg937= | |
| XM_005245073.2:c.2811G>A | XP_005245130.1:p.Arg937= | |
| XM_011509391.1:c.2811G>A | XP_011507693.1:p.Arg937= | |
| XM_005245073.3:c.2811G>A | XP_005245130.1:p.Arg937= | |
| XM_011509391.2:c.2811G>A | XP_011507693.1:p.Arg937= | |
| XM_017000960.1:c.2853G>A | XP_016856449.1:p.Arg951= | |
| NM_001025598.2:c.3255G>A MANE Select | NP_001020769.1:p.Arg1085= | |
| NM_001287600.2:c.2811G>A | NP_001274529.1:p.Arg937= | |
| NM_001287602.2:c.2724G>A | NP_001274531.1:p.Arg908= | |
| NM_181720.3:c.2622G>A | NP_859071.2:p.Arg874= |