gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00160283 (AFR)
Genomes Max Group AF
0.00152127 (AFR)
Exomes Max Group AF
0.00148294 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33173502C>T , CM000668.2:g.33173502C>T | GRCh38 |
| NC_000006.11:g.33141279C>T , CM000668.1:g.33141279C>T | GRCh37 |
| NC_000006.10:g.33249257C>T | NCBI36 |
| NG_011589.1:g.23967G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361917.6:c.1255G>A | ||
| ENST00000341947.7:c.2682G>A MANE Select | ENSP00000339915.2:p.Pro894= | |
| ENST00000341947.6:c.2682G>A | ENSP00000339915.2:p.Pro894= | |
| ENST00000361917.5:c.2361G>A | ENSP00000355123.1:p.Pro787= | |
| ENST00000374708.8:c.2424G>A | ENSP00000363840.4:p.Pro808= | |
| ENST00000477772.1:n.272+3507G>A | ||
| NM_080679.2:c.2361G>A | NP_542410.2:p.Pro787= | |
| NM_080680.2:c.2682G>A | NP_542411.2:p.Pro894= | |
| NM_080681.2:c.2424G>A | NP_542412.2:p.Pro808= | |
| XM_011514298.1:c.1836G>A | XP_011512600.1:p.Pro612= | |
| XM_011514299.1:c.1968G>A | XP_011512601.1:p.Pro656= | |
| XM_011514300.1:c.1788G>A | XP_011512602.1:p.Pro596= | |
| XM_011514301.1:c.1725G>A | XP_011512603.1:p.Pro575= | |
| XM_011514302.1:c.1569G>A | XP_011512604.1:p.Pro523= | |
| XM_011514299.2:c.1968G>A | XP_011512601.1:p.Pro656= | |
| XM_011514300.2:c.1788G>A | XP_011512602.1:p.Pro596= | |
| XM_011514302.2:c.1569G>A | XP_011512604.1:p.Pro523= | |
| XM_017010250.1:c.2682G>A | XP_016865739.1:p.Pro894= | |
| XM_017010251.2:c.1500G>A | XP_016865740.1:p.Pro500= | |
| NM_080680.3:c.2682G>A MANE Select | NP_542411.2:p.Pro894= | |
| NM_080681.3:c.2424G>A | NP_542412.2:p.Pro808= | |
| NM_080679.3:c.2361G>A | NP_542410.2:p.Pro787= |