Linked Data
ClinVar Variation Id:
2416365
ClinVar RCV Id:
RCV003107114
dbSNP Id:
rs537840150
ExAC:
2:220416843 C / G
gnomAD v2:
2-220416843-C-G
gnomAD v3:
2-219552121-C-G
gnomAD v4:
2-219552121-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219552121C>G , CM000664.2:g.219552121C>G | GRCh38 |
| NC_000002.11:g.220416843C>G , CM000664.1:g.220416843C>G | GRCh37 |
| NC_000002.10:g.220125087C>G | NCBI36 |
| NG_016977.1:g.24426G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404537.6:c.5404G>C MANE Select | ENSP00000385636.1:p.Glu1802Gln | |
| ENST00000373876.5:c.5128G>C | ENSP00000362983.1:p.Glu1710Gln | |
| ENST00000404537.5:c.5404G>C | ENSP00000385636.1:p.Glu1802Gln | |
| ENST00000462534.5:n.269G>C | ||
| ENST00000465149.1:n.4301G>C | ||
| ENST00000489804.5:n.275G>C | ||
| NM_015311.2:c.5404G>C | NP_056126.1:p.Glu1802Gln | |
| XM_005246424.3:c.5128G>C | XP_005246481.1:p.Glu1710Gln | |
| XM_011510854.1:c.5461G>C | XP_011509156.1:p.Glu1821Gln | |
| XM_011510855.1:c.5461G>C | XP_011509157.1:p.Glu1821Gln | |
| XM_011510856.1:c.5461G>C | XP_011509158.1:p.Glu1821Gln | |
| XM_011510857.1:c.5404G>C | XP_011509159.1:p.Glu1802Gln | |
| XM_011510858.1:c.5461G>C | XP_011509160.1:p.Glu1821Gln | |
| XM_011510859.1:c.5185G>C | XP_011509161.1:p.Glu1729Gln | |
| XM_011510860.1:c.5185G>C | XP_011509162.1:p.Glu1729Gln | |
| XM_011510861.1:c.4909G>C | XP_011509163.1:p.Glu1637Gln | |
| XM_011510857.2:c.5404G>C | XP_011509159.1:p.Glu1802Gln | |
| XM_017003696.2:c.5404G>C | XP_016859185.1:p.Glu1802Gln | |
| XM_017003697.2:c.5404G>C | XP_016859186.1:p.Glu1802Gln | |
| XM_017003698.1:c.5128G>C | XP_016859187.1:p.Glu1710Gln | |
| XM_017003699.1:c.5128G>C | XP_016859188.1:p.Glu1710Gln | |
| XM_017003700.1:c.4852G>C | XP_016859189.1:p.Glu1618Gln | |
| NM_015311.3:c.5404G>C MANE Select | NP_056126.1:p.Glu1802Gln |