gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00055035 (NFE)
Genomes Max Group AF
0.00114355 (NFE)
Exomes Max Group AF
0.00050305 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33166522G>A , CM000668.2:g.33166522G>A | GRCh38 |
| NC_000006.11:g.33134299G>A , CM000668.1:g.33134299G>A | GRCh37 |
| NC_000006.10:g.33242277G>A | NCBI36 |
| NG_011589.1:g.30947C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.234+269C>T | ||
| ENST00000341947.7:c.4383C>T MANE Select | ENSP00000339915.2:p.Pro1461= | |
| ENST00000341947.6:c.4383C>T | ENSP00000339915.2:p.Pro1461= | |
| ENST00000361917.5:c.4062C>T | ENSP00000355123.1:p.Pro1354= | |
| ENST00000374708.8:c.4125C>T | ENSP00000363840.4:p.Pro1375= | |
| ENST00000477772.1:n.273-706C>T | ||
| NM_080679.2:c.4062C>T | NP_542410.2:p.Pro1354= | |
| NM_080680.2:c.4383C>T | NP_542411.2:p.Pro1461= | |
| NM_080681.2:c.4125C>T | NP_542412.2:p.Pro1375= | |
| XM_011514298.1:c.3537C>T | XP_011512600.1:p.Pro1179= | |
| XM_011514299.1:c.3669C>T | XP_011512601.1:p.Pro1223= | |
| XM_011514300.1:c.3489C>T | XP_011512602.1:p.Pro1163= | |
| XM_011514301.1:c.3426C>T | XP_011512603.1:p.Pro1142= | |
| XM_011514302.1:c.3270C>T | XP_011512604.1:p.Pro1090= | |
| XM_011514299.2:c.3669C>T | XP_011512601.1:p.Pro1223= | |
| XM_011514300.2:c.3489C>T | XP_011512602.1:p.Pro1163= | |
| XM_011514302.2:c.3270C>T | XP_011512604.1:p.Pro1090= | |
| XM_017010250.1:c.4383C>T | XP_016865739.1:p.Pro1461= | |
| XM_017010251.2:c.3201C>T | XP_016865740.1:p.Pro1067= | |
| NM_080680.3:c.4383C>T MANE Select | NP_542411.2:p.Pro1461= | |
| NM_080681.3:c.4125C>T | NP_542412.2:p.Pro1375= | |
| NM_080679.3:c.4062C>T | NP_542410.2:p.Pro1354= |