MyVariant.info:
GRCh38
chr17:g.38375739T>C
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47685987 (AFR)
Genomes Max Group AF
0.47685987 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.38375739T>C , CM000679.2:g.38375739T>C | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612932.6:c.1553-1975T>C MANE Select | ENSP00000482229.2:n.1553-1975T>C | |
| ENST00000613678.5:c.1276-1975T>C | ||
| ENST00000665913.1:c.1361-1975T>C | ENSP00000499750.1:n.1361-1975T>C | |
| ENST00000612932.4:c.1361-1975T>C | ENSP00000482229.1:n.1361-1975T>C | |
| ENST00000613678.4:c.1259-1975T>C | ENSP00000484381.1:n.1259-1975T>C | |
| ENST00000617360.1:n.1679-101T>C | ||
| ENST00000617765.1:c.456-1975T>C | ||
| NM_014598.3:c.1361-1975T>C | NP_055413.1:n.1361-1975T>C | |
| XM_017024551.1:c.1451-1975T>C | XP_016880040.1:n.1451-1975T>C | |
| XM_017024552.1:c.1346-1975T>C | XP_016880041.1:n.1346-1975T>C | |
| XR_001752503.1:n.1922-1975T>C | ||
| NM_014598.4:c.1553-1975T>C MANE Select | NP_055413.2:n.1553-1975T>C |