gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.11411504 (MID)
Exomes Max Group AF
0.11946275 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20781011T>C , CM000686.2:g.20781011T>C | GRCh38 |
| NC_000024.9:g.22942897T>C , CM000686.1:g.22942897T>C | GRCh37 |
| NC_000024.8:g.21352285T>C | NCBI36 |
| NG_032924.1:g.29944T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000629237.2:c.771T>C MANE Select | ENSP00000486252.1:p.Ala257= | |
| ENST00000629237.1:c.771T>C | ENSP00000486252.1:p.Ala257= | |
| NM_001039567.2:c.771T>C | NP_001034656.1:p.Ala257= | |
| XM_011531423.1:c.720T>C | XP_011529725.1:p.Ala240= | |
| NM_001039567.3:c.771T>C MANE Select | NP_001034656.1:p.Ala257= |