gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013385 (AFR)
Genomes Max Group AF
0.0000787 (AFR)
Exomes Max Group AF
0.00014221 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40397755G>A , CM000681.2:g.40397755G>A | GRCh38 |
| NC_000019.9:g.40903662G>A , CM000681.1:g.40903662G>A | GRCh37 |
| NC_000019.8:g.45595502G>A | NCBI36 |
| NG_007979.1:g.20610C>T , LRG_265:g.20610C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.597C>T MANE Select | ENSP00000326018.6:p.Ala199= | |
| ENST00000673881.1:c.180C>T | ENSP00000501070.1:p.Ala60= | |
| ENST00000674005.2:c.882C>T | ENSP00000501261.1:p.Ala294= | |
| ENST00000674773.1:c.180C>T | ENSP00000502579.1:p.Ala60= | |
| ENST00000675517.1:c.472C>T | ||
| ENST00000676076.1:c.458C>T | ||
| ENST00000676260.1:c.559C>T | ||
| ENST00000676316.1:c.484C>T | ||
| ENST00000291825.11:c.*802C>T | ENSP00000291825.6:n.*802C>T | |
| ENST00000324001.7:c.597C>T | ENSP00000326018.6:p.Ala199= | |
| NM_020956.2:c.*802C>T , LRG_265t1:c.*802C>T | NP_066007.1:n.*802C>T | |
| NM_181882.2:c.597C>T , LRG_265t2:c.597C>T | NP_870998.2:p.Ala199= | |
| XM_011527171.1:c.597C>T | XP_011525473.1:p.Ala199= | |
| XM_011527171.2:c.597C>T | XP_011525473.1:p.Ala199= | |
| XM_017027046.1:c.495C>T | XP_016882535.1:p.Ala165= | |
| XM_017027047.1:c.495C>T | XP_016882536.1:p.Ala165= | |
| NM_181882.3:c.597C>T MANE Select | NP_870998.2:p.Ala199= |