gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005136 (SAS)
Genomes Max Group AF
0.00006825 (EAS)
Exomes Max Group AF
0.00004579 (SAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1260558G>A , CM000667.2:g.1260558G>A | GRCh38 |
| NC_000005.9:g.1260673G>A , CM000667.1:g.1260673G>A | GRCh37 |
| NC_000005.8:g.1313673G>A | NCBI36 |
| NG_009265.1:g.39490C>T , LRG_343:g.39490C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.2886C>T MANE Select | ENSP00000309572.5:p.Arg962= | |
| ENST00000656021.1:c.*2432C>T | ENSP00000499759.1:n.*2432C>T | |
| ENST00000667927.1:n.174C>T | ||
| ENST00000310581.9:c.2886C>T | ENSP00000309572.5:p.Arg962= | |
| ENST00000334602.10:c.2697C>T | ENSP00000334346.6:p.Arg899= | |
| ENST00000460137.6:c.2479C>T | ENSP00000425003.1:n.2479C>T | |
| ENST00000484238.6:n.1328C>T | ||
| NM_001193376.1:c.2697C>T | NP_001180305.1:p.Arg899= | |
| NM_198253.2:c.2886C>T , LRG_343t1:c.2886C>T | NP_937983.2:p.Arg962= | |
| XM_011514104.1:c.1356C>T | XP_011512406.1:p.Arg452= | |
| XM_011514105.1:c.1242C>T | XP_011512407.1:p.Arg414= | |
| XM_011514106.1:c.1242C>T | XP_011512408.1:p.Arg414= | |
| NR_149162.1:n.2573C>T | ||
| NR_149163.1:n.2537C>T | ||
| NM_001193376.2:c.2697C>T | NP_001180305.1:p.Arg899= | |
| NM_198253.3:c.2886C>T MANE Select | NP_937983.2:p.Arg962= | |
| NR_149162.2:n.2594C>T | ||
| NR_149163.2:n.2558C>T | ||
| NM_001193376.3:c.2697C>T | NP_001180305.1:p.Arg899= | |
| NR_149162.3:n.2594C>T | ||
| NR_149163.3:n.2558C>T |