Linked Data
dbSNP Id:
rs377043265
ExAC:
3:120389313 G / T
gnomAD v2:
3-120389313-G-T
gnomAD v3:
3-120670466-G-T
gnomAD v4:
3-120670466-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120670466G>T , CM000665.2:g.120670466G>T | GRCh38 |
| NC_000003.11:g.120389313G>T , CM000665.1:g.120389313G>T | GRCh37 |
| NC_000003.10:g.121872003G>T | NCBI36 |
| NG_011957.1:g.17016C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.243C>A MANE Select | ENSP00000283871.5:p.Val81= | |
| ENST00000283871.9:c.243C>A | ENSP00000283871.5:p.Val81= | |
| ENST00000466528.5:n.269C>A | ||
| ENST00000476082.2:c.120C>A | ENSP00000419560.2:p.Val40= | |
| ENST00000485313.5:n.351C>A | ||
| ENST00000488183.5:n.501C>A | ||
| NM_000187.3:c.243C>A | NP_000178.2:p.Val81= | |
| XM_005247412.1:c.243C>A | XP_005247469.1:p.Val81= | |
| XM_005247413.1:c.243C>A | XP_005247470.1:p.Val81= | |
| XM_005247414.3:c.243C>A | XP_005247471.1:p.Val81= | |
| XM_011512746.1:c.243C>A | XP_011511048.1:p.Val81= | |
| XM_005247412.2:c.243C>A | XP_005247469.1:p.Val81= | |
| XM_005247413.2:c.243C>A | XP_005247470.1:p.Val81= | |
| XM_005247414.5:c.243C>A | XP_005247471.1:p.Val81= | |
| XM_011512746.2:c.243C>A | XP_011511048.1:p.Val81= | |
| XM_017006277.2:c.-181C>A | XP_016861766.1:n.-181C>A | |
| NM_000187.4:c.243C>A MANE Select | NP_000178.2:p.Val81= |