MyVariant.info:
GRCh38
chr7:g.142864981C>T
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.94640675 (EAS)
Genomes Max Group AF
0.94640675 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142864981C>T , CM000669.2:g.142864981C>T | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652003.1:c.949+232C>T MANE Select | ENSP00000498670.1:n.949+232C>T | |
| ENST00000411471.6:c.70+232C>T | ENSP00000409061.3:n.70+232C>T | |
| ENST00000422643.5:c.949+232C>T | ENSP00000404786.2:n.949+232C>T | |
| ENST00000611578.4:c.*126+232C>T | ENSP00000477807.1:n.*126+232C>T | |
| ENST00000614832.4:c.*731+232C>T | ENSP00000482735.1:n.*731+232C>T | |
| ENST00000616380.4:n.1935+232C>T | ||
| ENST00000619012.4:c.949+232C>T | ENSP00000481994.1:n.949+232C>T | |
| NM_001280794.2:c.70+232C>T | NP_001267723.2:n.70+232C>T | |
| NM_001280795.2:c.70+232C>T | NP_001267724.2:n.70+232C>T | |
| NM_004445.5:c.949+232C>T | NP_004436.4:n.949+232C>T | |
| NR_104001.2:n.974+232C>T | ||
| XM_006715881.2:c.949+232C>T | XP_006715944.1:n.949+232C>T | |
| XM_011515879.1:c.949+232C>T | XP_011514181.1:n.949+232C>T | |
| XM_011515880.1:c.949+232C>T | XP_011514182.1:n.949+232C>T | |
| XM_011515881.1:c.949+232C>T | XP_011514183.1:n.949+232C>T | |
| XM_011515882.1:c.949+232C>T | XP_011514184.1:n.949+232C>T | |
| NM_004445.6:c.949+232C>T MANE Select | NP_004436.4:n.949+232C>T | |
| XM_011515881.3:c.949+232C>T | XP_011514183.1:n.949+232C>T | |
| XM_011515882.2:c.949+232C>T | XP_011514184.1:n.949+232C>T | |
| XM_024446674.1:c.949+232C>T | XP_024302442.1:n.949+232C>T | |
| XM_024446675.1:c.949+232C>T | XP_024302443.1:n.949+232C>T | |
| NM_001280794.3:c.70+232C>T | NP_001267723.2:n.70+232C>T |