Linked Data
ClinVar Variation Id:
328643
ClinVar RCV Id:
RCV000311507
dbSNP Id:
rs754519730
ExAC:
19:19307824 C / T
gnomAD v2:
19-19307824-C-T
gnomAD v4:
19-19197015-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.19197015C>T , CM000681.2:g.19197015C>T | GRCh38 |
| NC_000019.9:g.19307824C>T , CM000681.1:g.19307824C>T | GRCh37 |
| NC_000019.8:g.19168824C>T | NCBI36 |
| NG_007432.1:g.9817C>T , LRG_102:g.9817C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303088.9:c.240C>T MANE Select | ENSP00000305071.2:p.Asn80= | |
| ENST00000303088.8:c.240C>T | ENSP00000305071.2:p.Asn80= | |
| ENST00000392324.8:c.237C>T | ENSP00000376138.3:p.Asn79= | |
| ENST00000407360.7:c.240C>T | ENSP00000384572.3:p.Asn80= | |
| ENST00000421262.7:c.240C>T | ENSP00000393159.3:p.Asn80= | |
| ENST00000456252.7:c.240C>T | ENSP00000409138.2:p.Asn80= | |
| ENST00000535017.1:c.135C>T | ENSP00000444280.1:p.Asn45= | |
| ENST00000540981.5:c.240C>T | ENSP00000440325.2:p.Asn80= | |
| ENST00000541873.6:n.433C>T | ||
| ENST00000543157.7:n.500C>T | ||
| ENST00000545522.2:n.379C>T | ||
| ENST00000593273.5:c.237C>T | ENSP00000466913.1:p.Asn79= | |
| NM_001278727.1:c.240C>T | NP_001265656.1:p.Asn80= | |
| NM_001278728.1:c.237C>T | NP_001265657.1:p.Asn79= | |
| NM_003721.3:c.240C>T | NP_003712.1:p.Asn80= | |
| NM_134440.2:c.237C>T | NP_604389.1:p.Asn79= | |
| XM_005260134.3:c.240C>T | XP_005260191.1:p.Asn80= | |
| XM_005260135.2:c.240C>T | XP_005260192.1:p.Asn80= | |
| XM_005260136.3:c.237C>T | XP_005260193.1:p.Asn79= | |
| XM_005260137.3:c.237C>T | XP_005260194.1:p.Asn79= | |
| XM_006722930.2:c.237C>T | XP_006722993.1:p.Asn79= | |
| XM_005260134.5:c.240C>T | XP_005260191.1:p.Asn80= | |
| XM_005260135.3:c.240C>T | XP_005260192.1:p.Asn80= | |
| XM_005260136.5:c.237C>T | XP_005260193.1:p.Asn79= | |
| XM_005260137.4:c.237C>T | XP_005260194.1:p.Asn79= | |
| XM_006722930.4:c.237C>T | XP_006722993.1:p.Asn79= | |
| XM_017027415.1:c.240C>T | XP_016882904.1:p.Asn80= | |
| XM_017027416.1:c.240C>T | XP_016882905.1:p.Asn80= | |
| NM_003721.4:c.240C>T MANE Select | NP_003712.1:p.Asn80= | |
| NM_001370233.1:c.240C>T | NP_001357162.1:p.Asn80= | |
| NM_001370234.1:c.240C>T | NP_001357163.1:p.Asn80= | |
| NM_001370235.1:c.237C>T | NP_001357164.1:p.Asn79= | |
| NM_001370236.1:c.237C>T | NP_001357165.1:p.Asn79= | |
| NM_001370237.1:c.237C>T | NP_001357166.1:p.Asn79= | |
| NM_001370238.1:c.240C>T | NP_001357167.1:p.Asn80= | |
| NM_001278727.2:c.240C>T | NP_001265656.1:p.Asn80= | |
| NM_001278728.2:c.237C>T | NP_001265657.1:p.Asn79= | |
| NM_134440.3:c.237C>T | NP_604389.1:p.Asn79= |