Linked Data
ClinVar Variation Id:
40824
dbSNP Id:
rs539555837
ExAC:
19:4099300 T / C
gnomAD v2:
19-4099300-T-C
gnomAD v3:
19-4099302-T-C
gnomAD v4:
19-4099302-T-C
ERepo:
CA296139/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4099302T>C , CM000681.2:g.4099302T>C | GRCh38 |
| NC_000019.9:g.4099300T>C , CM000681.1:g.4099300T>C | GRCh37 |
| NC_000019.8:g.4050300T>C | NCBI36 |
| NG_007996.1:g.29827A>G , LRG_750:g.29827A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394867.9:n.1257A>G | ||
| ENST00000687128.1:n.1257A>G | ||
| ENST00000688002.1:n.1112A>G | ||
| ENST00000689792.1:n.722A>G | ||
| ENST00000262948.10:c.818A>G MANE Select | ENSP00000262948.4:p.Lys273Arg | |
| ENST00000262948.9:c.818A>G | ENSP00000262948.3:p.Lys273Arg | |
| ENST00000394867.8:c.527A>G | ENSP00000378336.1:p.Lys176Arg | |
| ENST00000593364.5:n.765A>G | ||
| ENST00000595715.1:n.633A>G | ||
| ENST00000597263.5:n.169+1717A>G | ||
| ENST00000599021.1:c.29+1717A>G | ||
| ENST00000600584.5:n.1378A>G | ||
| ENST00000601786.5:n.1119A>G | ||
| NM_030662.3:c.818A>G , LRG_750t1:c.818A>G | NP_109587.1:p.Lys273Arg | |
| XM_006722799.2:c.705+1717A>G | XP_006722862.1:n.705+1717A>G | |
| XM_011528133.1:c.248A>G | XP_011526435.1:p.Lys83Arg | |
| XM_017026989.1:c.818A>G | XP_016882478.1:p.Lys273Arg | |
| XM_017026990.1:c.705+1717A>G | XP_016882479.1:n.705+1717A>G | |
| NM_030662.4:c.818A>G MANE Select | NP_109587.1:p.Lys273Arg |