Linked Data
dbSNP Id:
rs773582449
ExAC:
17:4858754 G / A
gnomAD v2:
17-4858754-G-A
gnomAD v4:
17-4955459-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4955459G>A , CM000679.2:g.4955459G>A | GRCh38 |
| NC_000017.10:g.4858754G>A , CM000679.1:g.4858754G>A | GRCh37 |
| NC_000017.9:g.4799500G>A | NCBI36 |
| NG_012063.2:g.14369G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519602.6:c.720G>A MANE Select | ENSP00000430055.2:p.Val240= | |
| ENST00000323997.10:c.720G>A | ENSP00000324105.6:p.Val240= | |
| ENST00000518175.1:c.720G>A | ENSP00000431087.1:p.Val240= | |
| ENST00000519584.5:c.591G>A | ENSP00000430636.1:p.Val197= | |
| ENST00000519602.5:c.720G>A | ENSP00000430055.1:p.Val240= | |
| ENST00000521659.5:c.*666G>A | ENSP00000430554.1:n.*666G>A | |
| NM_001193503.1:c.591G>A | NP_001180432.1:p.Val197= | |
| NM_001976.4:c.720G>A | NP_001967.3:p.Val240= | |
| NM_053013.3:c.720G>A | NP_443739.3:p.Val240= | |
| XM_005256521.2:c.747G>A | XP_005256578.1:p.Val249= | |
| XM_011523729.1:c.720G>A | XP_011522031.1:p.Val240= | |
| XM_017024346.2:c.720G>A | XP_016879835.1:p.Val240= | |
| NM_001193503.2:c.591G>A | NP_001180432.1:p.Val197= | |
| NM_001374523.1:c.720G>A | NP_001361452.1:p.Val240= | |
| NM_001374524.1:c.747G>A | NP_001361453.1:p.Val249= | |
| NM_001976.5:c.720G>A | NP_001967.3:p.Val240= | |
| NM_053013.4:c.720G>A MANE Select | NP_443739.3:p.Val240= |