gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00009941 (NFE)
Genomes Max Group AF
0.00002847 (NFE)
Exomes Max Group AF
0.00010107 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33173375C>T , CM000668.2:g.33173375C>T | GRCh38 |
| NC_000006.11:g.33141152C>T , CM000668.1:g.33141152C>T | GRCh37 |
| NC_000006.10:g.33249130C>T | NCBI36 |
| NG_011589.1:g.24094G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361917.6:c.1282G>A | ||
| ENST00000341947.7:c.2709G>A MANE Select | ENSP00000339915.2:p.Pro903= | |
| ENST00000341947.6:c.2709G>A | ENSP00000339915.2:p.Pro903= | |
| ENST00000361917.5:c.2388G>A | ENSP00000355123.1:p.Pro796= | |
| ENST00000374708.8:c.2451G>A | ENSP00000363840.4:p.Pro817= | |
| ENST00000477772.1:n.272+3634G>A | ||
| NM_080679.2:c.2388G>A | NP_542410.2:p.Pro796= | |
| NM_080680.2:c.2709G>A | NP_542411.2:p.Pro903= | |
| NM_080681.2:c.2451G>A | NP_542412.2:p.Pro817= | |
| XM_011514298.1:c.1863G>A | XP_011512600.1:p.Pro621= | |
| XM_011514299.1:c.1995G>A | XP_011512601.1:p.Pro665= | |
| XM_011514300.1:c.1815G>A | XP_011512602.1:p.Pro605= | |
| XM_011514301.1:c.1752G>A | XP_011512603.1:p.Pro584= | |
| XM_011514302.1:c.1596G>A | XP_011512604.1:p.Pro532= | |
| XM_011514299.2:c.1995G>A | XP_011512601.1:p.Pro665= | |
| XM_011514300.2:c.1815G>A | XP_011512602.1:p.Pro605= | |
| XM_011514302.2:c.1596G>A | XP_011512604.1:p.Pro532= | |
| XM_017010250.1:c.2709G>A | XP_016865739.1:p.Pro903= | |
| XM_017010251.2:c.1527G>A | XP_016865740.1:p.Pro509= | |
| NM_080680.3:c.2709G>A MANE Select | NP_542411.2:p.Pro903= | |
| NM_080681.3:c.2451G>A | NP_542412.2:p.Pro817= | |
| NM_080679.3:c.2388G>A | NP_542410.2:p.Pro796= |