Linked Data
dbSNP Id:
rs1893562351
gnomAD v4:
15-40651498-A-G
MyVariant Identifiers:
chr15:g.40943696A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40651498A>G , CM000677.2:g.40651498A>G | GRCh38 |
| NC_000015.9:g.40943696A>G , CM000677.1:g.40943696A>G | GRCh37 |
| NC_000015.8:g.38730988A>G | NCBI36 |
| NG_033114.1:g.62250A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399668.7:c.6240A>G MANE Select | ENSP00000382576.3:p.Lys2080= | |
| ENST00000346991.9:c.6318A>G | ENSP00000335463.6:p.Lys2106= | |
| ENST00000399668.6:c.6240A>G | ENSP00000382576.2:p.Lys2080= | |
| ENST00000526913.5:c.3373A>G | ||
| ENST00000532347.1:n.320A>G | ||
| NM_144508.4:c.6240A>G | NP_653091.3:p.Lys2080= | |
| NM_170589.4:c.6318A>G | NP_733468.3:p.Lys2106= | |
| XM_011521816.1:c.5916A>G | XP_011520118.1:p.Lys1972= | |
| XM_011521817.1:c.6240A>G | XP_011520119.1:p.Lys2080= | |
| XM_017022432.1:c.5916A>G | XP_016877921.1:p.Lys1972= | |
| NM_144508.5:c.6240A>G MANE Select | NP_653091.3:p.Lys2080= | |
| NM_170589.5:c.6318A>G | NP_733468.3:p.Lys2106= |