dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.8005175 (AFR)
Genomes Max Group AF
0.8005175 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.37365485C>T , CM000664.2:g.37365485C>T | GRCh38 |
| NC_000002.11:g.37592628C>T , CM000664.1:g.37592628C>T | GRCh37 |
| NC_000002.10:g.37446132C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338415.8:c.547-1747C>T MANE Select | ENSP00000344829.3:n.547-1747C>T | |
| ENST00000650442.1:c.355-1747C>T | ENSP00000498156.1:n.355-1747C>T | |
| ENST00000338415.7:c.547-1747C>T | ENSP00000344829.3:n.547-1747C>T | |
| ENST00000404976.5:c.400-1747C>T | ENSP00000385391.1:n.400-1747C>T | |
| ENST00000480050.1:n.457-1747C>T | ||
| NM_012413.3:c.547-1747C>T | NP_036545.1:n.547-1747C>T | |
| NM_012413.4:c.547-1747C>T MANE Select | NP_036545.1:n.547-1747C>T |