MyVariant.info:
GRCh38
chr17:g.2359409C>A
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2359409C>A , CM000679.2:g.2359409C>A | GRCh38 |
| NC_000017.10:g.2262703C>A , CM000679.1:g.2262703C>A | GRCh37 |
| NC_000017.9:g.2209453C>A | NCBI36 |
| NG_051965.1:g.26896C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268989.8:c.134-2228C>A MANE Select | ENSP00000268989.3:n.134-2228C>A | |
| ENST00000268989.7:c.134-2228C>A | ENSP00000268989.3:n.134-2228C>A | |
| ENST00000426855.6:c.134-2228C>A | ENSP00000415107.2:n.134-2228C>A | |
| ENST00000572875.1:c.58-2228C>A | ENSP00000459218.2:n.58-2228C>A | |
| ENST00000573062.5:c.134-2228C>A | ENSP00000476800.1:n.134-2228C>A | |
| ENST00000574563.5:c.134-2228C>A | ENSP00000459126.1:n.134-2228C>A | |
| NM_001098509.1:c.134-2228C>A | NP_001091979.1:n.134-2228C>A | |
| NM_014853.2:c.134-2228C>A | NP_055668.2:n.134-2228C>A | |
| XM_011524101.1:c.272-2228C>A | XP_011522403.1:n.272-2228C>A | |
| XM_011524102.1:c.272-2228C>A | XP_011522404.1:n.272-2228C>A | |
| XM_011524103.1:c.272-2228C>A | XP_011522405.1:n.272-2228C>A | |
| XM_011524104.1:c.224-2228C>A | XP_011522406.1:n.224-2228C>A | |
| XM_011524105.1:c.272-2228C>A | XP_011522407.1:n.272-2228C>A | |
| XM_011524106.1:c.134-2228C>A | XP_011522408.1:n.134-2228C>A | |
| XM_011524107.1:c.272-2228C>A | XP_011522409.1:n.272-2228C>A | |
| XM_011524108.1:c.134-2228C>A | XP_011522410.1:n.134-2228C>A | |
| XM_011524109.1:c.272-2228C>A | XP_011522411.1:n.272-2228C>A | |
| XM_011524110.1:c.272-2228C>A | XP_011522412.1:n.272-2228C>A | |
| XR_934127.1:n.373-2228C>A | ||
| XR_934128.1:n.373-2228C>A | ||
| XR_934129.1:n.373-2228C>A | ||
| NM_001346700.1:c.134-2228C>A | NP_001333629.1:n.134-2228C>A | |
| XM_011524101.3:c.272-2228C>A | XP_011522403.1:n.272-2228C>A | |
| XM_011524102.3:c.272-2228C>A | XP_011522404.1:n.272-2228C>A | |
| XM_011524103.3:c.272-2228C>A | XP_011522405.1:n.272-2228C>A | |
| XM_011524104.2:c.224-2228C>A | XP_011522406.1:n.224-2228C>A | |
| XM_011524105.3:c.272-2228C>A | XP_011522407.1:n.272-2228C>A | |
| XM_011524107.3:c.272-2228C>A | XP_011522409.1:n.272-2228C>A | |
| XM_011524109.3:c.272-2228C>A | XP_011522411.1:n.272-2228C>A | |
| XM_011524110.3:c.272-2228C>A | XP_011522412.1:n.272-2228C>A | |
| XM_017025474.2:c.272-2228C>A | XP_016880963.1:n.272-2228C>A | |
| XM_017025475.2:c.272-2228C>A | XP_016880964.1:n.272-2228C>A | |
| XR_002958096.1:n.1469-2228C>A | ||
| XR_934127.3:n.1469-2228C>A | ||
| XR_934129.3:n.1469-2228C>A | ||
| NM_014853.3:c.134-2228C>A MANE Select | NP_055668.2:n.134-2228C>A | |
| NM_001098509.2:c.134-2228C>A | NP_001091979.1:n.134-2228C>A | |
| NM_001346700.2:c.134-2228C>A | NP_001333629.1:n.134-2228C>A |