Linked Data
dbSNP Id:
rs1236135596
gnomAD v2:
2-219757970-G-A
gnomAD v3:
2-218893248-G-A
gnomAD v4:
2-218893248-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893248G>A , CM000664.2:g.218893248G>A | GRCh38 |
| NC_000002.11:g.219757970G>A , CM000664.1:g.219757970G>A | GRCh37 |
| NC_000002.10:g.219466214G>A | NCBI36 |
| NG_012179.1:g.17716G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1231G>A MANE Select | ENSP00000258411.3:p.Glu411Lys | |
| ENST00000258411.7:c.1231G>A | ENSP00000258411.3:p.Glu411Lys | |
| ENST00000489887.1:n.28G>A | ||
| NM_025216.2:c.1231G>A | NP_079492.2:p.Glu411Lys | |
| XM_011511928.1:c.1180G>A | XP_011510230.1:p.Glu394Lys | |
| XM_011511929.1:c.1135G>A | XP_011510231.1:p.Glu379Lys | |
| XM_011511930.1:c.851G>A | XP_011510232.1:p.Arg284Gln | |
| XM_011511929.2:c.1135G>A | XP_011510231.1:p.Glu379Lys | |
| NM_025216.3:c.1231G>A MANE Select | NP_079492.2:p.Glu411Lys |