MyVariant.info:
GRCh37
chr17:g.48266126G>T
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50188765G>T , CM000679.2:g.50188765G>T | GRCh38 |
| NC_000017.10:g.48266126G>T , CM000679.1:g.48266126G>T | GRCh37 |
| NC_000017.9:g.45621125G>T | NCBI36 |
| NG_007400.1:g.17875C>A , LRG_1:g.17875C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.3076C>A MANE Select | ENSP00000225964.6:p.Arg1026= | |
| ENST00000225964.9:c.3076C>A | ENSP00000225964.5:p.Arg1026= | |
| ENST00000511732.1:n.20C>A | ||
| NM_000088.3:c.3076C>A , LRG_1t1:c.3076C>A | NP_000079.2:p.Arg1026= | |
| XM_005257058.3:c.2806C>A | XP_005257115.2:p.Arg936= | |
| XM_005257059.3:c.2158C>A | XP_005257116.2:p.Arg720= | |
| XM_011524341.1:c.2878C>A | XP_011522643.1:p.Arg960= | |
| XM_005257058.4:c.2806C>A | XP_005257115.2:p.Arg936= | |
| XM_005257059.4:c.2158C>A | XP_005257116.2:p.Arg720= | |
| NM_000088.4:c.3076C>A MANE Select | NP_000079.2:p.Arg1026= |