gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00102555 (EAS)
Genomes Max Group AF
0.00015677 (EAS)
Exomes Max Group AF
0.00109248 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33163801C>T , CM000668.2:g.33163801C>T | GRCh38 |
| NC_000006.11:g.33131578C>T , CM000668.1:g.33131578C>T | GRCh37 |
| NC_000006.10:g.33239556C>T | NCBI36 |
| NG_011589.1:g.33668G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.894G>A | ||
| ENST00000341947.7:c.5088G>A MANE Select | ENSP00000339915.2:p.Thr1696= | |
| ENST00000341947.6:c.5088G>A | ENSP00000339915.2:p.Thr1696= | |
| ENST00000361917.5:c.4767G>A | ENSP00000355123.1:p.Thr1589= | |
| ENST00000374708.8:c.4830G>A | ENSP00000363840.4:p.Thr1610= | |
| ENST00000477772.1:n.878G>A | ||
| NM_080679.2:c.4767G>A | NP_542410.2:p.Thr1589= | |
| NM_080680.2:c.5088G>A | NP_542411.2:p.Thr1696= | |
| NM_080681.2:c.4830G>A | NP_542412.2:p.Thr1610= | |
| XM_011514298.1:c.4242G>A | XP_011512600.1:p.Thr1414= | |
| XM_011514299.1:c.4374G>A | XP_011512601.1:p.Thr1458= | |
| XM_011514300.1:c.4194G>A | XP_011512602.1:p.Thr1398= | |
| XM_011514301.1:c.4131G>A | XP_011512603.1:p.Thr1377= | |
| XM_011514302.1:c.3975G>A | XP_011512604.1:p.Thr1325= | |
| XM_011514299.2:c.4374G>A | XP_011512601.1:p.Thr1458= | |
| XM_011514300.2:c.4194G>A | XP_011512602.1:p.Thr1398= | |
| XM_011514302.2:c.3975G>A | XP_011512604.1:p.Thr1325= | |
| XM_017010250.1:c.5088G>A | XP_016865739.1:p.Thr1696= | |
| XM_017010251.2:c.3906G>A | XP_016865740.1:p.Thr1302= | |
| NM_080680.3:c.5088G>A MANE Select | NP_542411.2:p.Thr1696= | |
| NM_080681.3:c.4830G>A | NP_542412.2:p.Thr1610= | |
| NM_080679.3:c.4767G>A | NP_542410.2:p.Thr1589= |