Linked Data
ClinVar Variation Id:
475873
dbSNP Id:
rs200201449
ExAC:
6:75848173 C / T
gnomAD v2:
6-75848173-C-T
gnomAD v3:
6-75138457-C-T
gnomAD v4:
6-75138457-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75138457C>T , CM000668.2:g.75138457C>T | GRCh38 |
| NC_000006.11:g.75848173C>T , CM000668.1:g.75848173C>T | GRCh37 |
| NC_000006.10:g.75904893C>T | NCBI36 |
| NG_042181.1:g.72451G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.5221G>A MANE Select | ENSP00000325146.8:p.Glu1741Lys | |
| ENST00000322507.12:c.5221G>A | ENSP00000325146.8:p.Glu1741Lys | |
| ENST00000345356.10:c.1729G>A | ENSP00000305147.9:p.Glu577Lys | |
| ENST00000416123.6:c.5221G>A | ENSP00000412864.2:p.Glu1741Lys | |
| ENST00000419671.1:c.1445G>A | ||
| ENST00000483888.6:c.5221G>A | ENSP00000421216.1:p.Glu1741Lys | |
| ENST00000615798.4:c.1654G>A | ENSP00000483232.1:p.Glu552Lys | |
| NM_004370.5:c.5221G>A | NP_004361.3:p.Glu1741Lys | |
| NM_080645.2:c.1729G>A | NP_542376.2:p.Glu577Lys | |
| XM_011535434.1:c.5221G>A | XP_011533736.1:p.Glu1741Lys | |
| XM_011535435.1:c.4948G>A | XP_011533737.1:p.Glu1650Lys | |
| XM_011535436.1:c.1729G>A | XP_011533738.1:p.Glu577Lys | |
| XM_011535436.2:c.1729G>A | XP_011533738.1:p.Glu577Lys | |
| XM_017010252.2:c.5185G>A | XP_016865741.1:p.Glu1729Lys | |
| NM_004370.6:c.5221G>A MANE Select | NP_004361.3:p.Glu1741Lys | |
| NM_080645.3:c.1729G>A | NP_542376.2:p.Glu577Lys |