Linked Data
ClinVar Variation Id:
2048038
ClinVar RCV Id:
RCV002927005
dbSNP Id:
rs201051655
ExAC:
5:36984951 A / G
gnomAD v2:
5-36984951-A-G
gnomAD v3:
5-36984849-A-G
gnomAD v4:
5-36984849-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36984849A>G , CM000667.2:g.36984849A>G | GRCh38 |
| NC_000005.9:g.36984951A>G , CM000667.1:g.36984951A>G | GRCh37 |
| NC_000005.8:g.37020708A>G | NCBI36 |
| NG_006987.1:g.112967A>G | |
| NG_006987.2:g.112967A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.1669A>G MANE Select | ENSP00000282516.8:p.Ile557Val | |
| ENST00000652901.1:c.1669A>G | ENSP00000499536.1:p.Ile557Val | |
| ENST00000282516.12:c.1669A>G | ENSP00000282516.8:p.Ile557Val | |
| ENST00000448238.2:c.1669A>G | ENSP00000406266.2:p.Ile557Val | |
| ENST00000504430.5:n.1289A>G | ||
| ENST00000621733.1:c.1-79729A>G | ENSP00000480694.1:n.1-79729A>G | |
| NM_015384.4:c.1669A>G | NP_056199.2:p.Ile557Val | |
| NM_133433.3:c.1669A>G | NP_597677.2:p.Ile557Val | |
| XM_005248280.2:c.1669A>G | XP_005248337.1:p.Ile557Val | |
| XM_005248282.3:c.925A>G | XP_005248339.2:p.Ile309Val | |
| XM_006714467.2:c.1669A>G | XP_006714530.1:p.Ile557Val | |
| XM_006714468.1:c.1669A>G | XP_006714531.1:p.Ile557Val | |
| XM_011514014.1:c.1669A>G | XP_011512316.1:p.Ile557Val | |
| XM_011514015.1:c.1669A>G | XP_011512317.1:p.Ile557Val | |
| XM_005248280.3:c.1669A>G | XP_005248337.1:p.Ile557Val | |
| XM_005248282.5:c.1009A>G | XP_005248339.3:p.Ile337Val | |
| XM_006714468.2:c.1669A>G | XP_006714531.1:p.Ile557Val | |
| XM_017009329.1:c.1669A>G | XP_016864818.1:p.Ile557Val | |
| XM_017009330.2:c.52A>G | XP_016864819.1:p.Ile18Val | |
| XM_017009331.1:c.1495+8447A>G | XP_016864820.1:n.1495+8447A>G | |
| NM_133433.4:c.1669A>G MANE Select | NP_597677.2:p.Ile557Val | |
| NM_015384.5:c.1669A>G | NP_056199.2:p.Ile557Val |