Linked Data
dbSNP Id:
rs781329115
ExAC:
5:40964856 T / A
gnomAD v2:
5-40964856-T-A
gnomAD v4:
5-40964754-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.40964754T>A , CM000667.2:g.40964754T>A | GRCh38 |
| NC_000005.9:g.40964856T>A , CM000667.1:g.40964856T>A | GRCh37 |
| NC_000005.8:g.41000613T>A | NCBI36 |
| NG_011692.1:g.60258T>A , LRG_30:g.60258T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486779.2:n.555T>A | ||
| ENST00000696333.1:c.1763T>A | ENSP00000512566.1:p.Met588Lys | |
| ENST00000696441.1:c.1763T>A | ENSP00000512631.1:p.Met588Lys | |
| ENST00000706664.1:n.1877T>A | ||
| ENST00000706666.1:n.1839T>A | ||
| ENST00000706667.1:n.2653T>A | ||
| ENST00000706668.1:n.2491T>A | ||
| ENST00000313164.10:c.1763T>A MANE Select | ENSP00000322061.9:p.Met588Lys | |
| ENST00000313164.9:c.1763T>A | ENSP00000322061.9:p.Met588Lys | |
| ENST00000486779.1:n.276T>A | ||
| NM_000587.2:c.1763T>A , LRG_30t1:c.1763T>A | NP_000578.2:p.Met588Lys | |
| XM_011514122.1:c.1763T>A | XP_011512424.1:p.Met588Lys | |
| NM_000587.3:c.1763T>A | NP_000578.2:p.Met588Lys | |
| NM_000587.4:c.1763T>A MANE Select | NP_000578.2:p.Met588Lys |