gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63844984 (AMR)
Genomes Max Group AF
0.60863809 (AMR)
Exomes Max Group AF
0.64605671 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70758081C>T , CM000672.2:g.70758081C>T | GRCh38 |
| NC_000010.10:g.72517837C>T , CM000672.1:g.72517837C>T | GRCh37 |
| NC_000010.9:g.72187843C>T | NCBI36 |
| NG_042147.1:g.90279C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373207.2:c.3057C>T MANE Select | ENSP00000362303.1:p.Pro1019= | |
| ENST00000373207.1:c.3057C>T | ENSP00000362303.1:p.Pro1019= | |
| ENST00000373208.5:c.3066C>T | ENSP00000362304.1:p.Pro1022= | |
| NM_080722.3:c.3057C>T | NP_542453.2:p.Pro1019= | |
| NM_139155.2:c.3066C>T | NP_631894.2:p.Pro1022= | |
| XM_011539300.1:c.2556C>T | XP_011537602.1:p.Pro852= | |
| XM_011539301.1:c.2130C>T | XP_011537603.1:p.Pro710= | |
| XM_011539302.1:c.2130C>T | XP_011537604.1:p.Pro710= | |
| XM_011539309.1:c.1626C>T | XP_011537611.1:p.Pro542= | |
| NM_080722.4:c.3057C>T MANE Select | NP_542453.2:p.Pro1019= | |
| NM_139155.3:c.3066C>T | NP_631894.2:p.Pro1022= | |
| XM_011539300.2:c.2556C>T | XP_011537602.1:p.Pro852= | |
| XM_011539301.2:c.2130C>T | XP_011537603.1:p.Pro710= | |
| XM_011539302.2:c.2130C>T | XP_011537604.1:p.Pro710= |