Linked Data
ClinVar Variation Id:
2063019
ClinVar RCV Id:
RCV002958189
dbSNP Id:
rs782545650
ExAC:
19:42373216 C / G
gnomAD v3:
19-41869146-C-G
gnomAD v4:
19-41869146-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41869146C>G , CM000681.2:g.41869146C>G | GRCh38 |
| NC_000019.9:g.42373216C>G , CM000681.1:g.42373216C>G | GRCh37 |
| NC_000019.8:g.47065056C>G | NCBI36 |
| NG_007080.2:g.14229C>G | |
| NG_007080.3:g.14229C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000598261.2:c.301C>G | ||
| ENST00000598742.6:c.288C>G MANE Select | ENSP00000470972.1:p.Ser96= | |
| ENST00000600467.6:c.288C>G | ENSP00000469228.2:p.Ser96= | |
| ENST00000221975.6:c.66C>G | ENSP00000221975.2:p.Ser22= | |
| ENST00000593863.5:c.288C>G | ENSP00000470004.1:p.Ser96= | |
| ENST00000598261.1:c.301C>G | ||
| ENST00000598399.1:c.1126C>G | ENSP00000472660.1:n.1126C>G | |
| ENST00000598742.5:c.288C>G | ENSP00000470972.1:p.Ser96= | |
| NM_001022.3:c.288C>G | NP_001013.1:p.Ser96= | |
| NM_001321483.1:c.288C>G | NP_001308412.1:p.Ser96= | |
| NM_001321484.1:c.288C>G | NP_001308413.1:p.Ser96= | |
| NM_001321485.1:c.301C>G | NP_001308414.1:p.Gln101Glu | |
| XM_017027113.2:c.288C>G | XP_016882602.1:p.Ser96= | |
| NM_001022.4:c.288C>G MANE Select | NP_001013.1:p.Ser96= | |
| NM_001321483.2:c.288C>G | NP_001308412.1:p.Ser96= | |
| NM_001321484.2:c.288C>G | NP_001308413.1:p.Ser96= | |
| NM_001321485.2:c.301C>G | NP_001308414.1:p.Gln101Glu |