gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00243159 (EAS)
Genomes Max Group AF
0.00090665 (EAS)
Exomes Max Group AF
0.00253827 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7128944C>T , CM000681.2:g.7128944C>T | GRCh38 |
| NC_000019.9:g.7128955C>T , CM000681.1:g.7128955C>T | GRCh37 |
| NC_000019.8:g.7079955C>T | NCBI36 |
| NG_008852.2:g.170057G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.2853G>A MANE Select | ENSP00000303830.4:p.Pro951= | |
| ENST00000302850.9:c.2853G>A | ENSP00000303830.4:p.Pro951= | |
| ENST00000341500.9:c.2817G>A | ENSP00000342838.4:p.Pro939= | |
| NM_000208.2:c.2853G>A | NP_000199.2:p.Pro951= | |
| NM_000208.3:c.2853G>A | NP_000199.2:p.Pro951= | |
| NM_001079817.1:c.2817G>A | NP_001073285.1:p.Pro939= | |
| NM_001079817.2:c.2817G>A | NP_001073285.1:p.Pro939= | |
| XM_011527988.1:c.2928G>A | XP_011526290.1:p.Pro976= | |
| XM_011527989.1:c.2892G>A | XP_011526291.1:p.Pro964= | |
| XM_011527988.2:c.2850G>A | XP_011526290.2:p.Pro950= | |
| XM_011527989.3:c.2814G>A | XP_011526291.2:p.Pro938= | |
| NM_000208.4:c.2853G>A MANE Select | NP_000199.2:p.Pro951= | |
| NM_001079817.3:c.2817G>A | NP_001073285.1:p.Pro939= |