gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004378 (AFR)
Genomes Max Group AF
0.00000801 (AFR)
Exomes Max Group AF
0.0000585 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41972595A>G , CM000669.2:g.41972595A>G | GRCh38 |
| NC_000007.13:g.42012194A>G , CM000669.1:g.42012194A>G | GRCh37 |
| NC_000007.12:g.41978719A>G | NCBI36 |
| NG_008434.1:g.269425T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395925.8:c.1845T>C MANE Select | ENSP00000379258.3:p.Thr615= | |
| ENST00000677288.1:c.1671T>C | ENSP00000503986.1:p.Thr557= | |
| ENST00000677605.1:c.1845T>C | ENSP00000503743.1:p.Thr615= | |
| ENST00000678429.1:c.1845T>C | ENSP00000502957.1:p.Thr615= | |
| ENST00000395925.7:c.1845T>C | ENSP00000379258.3:p.Thr615= | |
| ENST00000464291.1:n.398T>C | ||
| ENST00000479210.1:n.1822T>C | ||
| NM_000168.5:c.1845T>C | NP_000159.3:p.Thr615= | |
| XM_005249703.1:c.1845T>C | XP_005249760.1:p.Thr615= | |
| XM_005249704.2:c.1845T>C | XP_005249761.1:p.Thr615= | |
| XM_011515272.1:c.1845T>C | XP_011513574.1:p.Thr615= | |
| XM_011515273.1:c.1845T>C | XP_011513575.1:p.Thr615= | |
| XM_011515274.1:c.1668T>C | XP_011513576.1:p.Thr556= | |
| XM_011515274.2:c.1668T>C | XP_011513576.1:p.Thr556= | |
| XM_017011997.1:c.1842T>C | XP_016867486.1:p.Thr614= | |
| NM_000168.6:c.1845T>C MANE Select | NP_000159.3:p.Thr615= |