Linked Data
dbSNP Id:
rs1599484849
gnomAD v3:
19-18069601-C-G
gnomAD v4:
19-18069601-C-G
MyVariant Identifiers:
chr19:g.18180411C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18069601C>G , CM000681.2:g.18069601C>G | GRCh38 |
| NC_000019.9:g.18180411C>G , CM000681.1:g.18180411C>G | GRCh37 |
| NC_000019.8:g.18041411C>G | NCBI36 |
| NG_007366.2:g.34349G>C , LRG_72:g.34349G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593993.7:c.1134G>C MANE Select | ENSP00000472165.2:p.Gly378= | |
| ENST00000593993.6:c.1134G>C | ENSP00000472165.2:p.Gly378= | |
| ENST00000600835.6:c.1134G>C | ENSP00000470788.1:p.Gly378= | |
| NM_001290023.1:c.1134G>C | NP_001276952.1:p.Gly378= | |
| NM_001290024.1:c.1254G>C | NP_001276953.1:p.Gly418= | |
| NM_005535.2:c.1134G>C | NP_005526.1:p.Gly378= | |
| XM_006722741.2:c.1254G>C | XP_006722804.2:p.Gly418= | |
| XM_011527966.1:c.1287G>C | XP_011526268.1:p.Gly429= | |
| XM_011527967.1:c.1275G>C | XP_011526269.1:p.Gly425= | |
| XM_011527968.1:c.1266G>C | XP_011526270.1:p.Gly422= | |
| XM_011527969.1:c.1254G>C | XP_011526271.1:p.Gly418= | |
| XM_011527970.1:c.1287G>C | XP_011526272.1:p.Gly429= | |
| XM_011527971.1:c.1287G>C | XP_011526273.1:p.Gly429= | |
| XM_011527972.1:c.1287G>C | XP_011526274.1:p.Gly429= | |
| XM_011527973.1:c.1167G>C | XP_011526275.1:p.Gly389= | |
| XM_011527974.1:c.1155G>C | XP_011526276.1:p.Gly385= | |
| XM_011527975.1:c.1254G>C | XP_011526277.1:p.Gly418= | |
| XM_011527976.1:c.1287G>C | XP_011526278.1:p.Gly429= | |
| XM_006722741.3:c.1254G>C | XP_006722804.2:p.Gly418= | |
| XM_011527966.2:c.1287G>C | XP_011526268.1:p.Gly429= | |
| XM_011527967.2:c.1275G>C | XP_011526269.1:p.Gly425= | |
| XM_011527968.3:c.1266G>C | XP_011526270.1:p.Gly422= | |
| XM_011527969.2:c.1254G>C | XP_011526271.1:p.Gly418= | |
| XM_011527970.2:c.1287G>C | XP_011526272.1:p.Gly429= | |
| XM_011527971.3:c.1287G>C | XP_011526273.1:p.Gly429= | |
| XM_011527972.3:c.1287G>C | XP_011526274.1:p.Gly429= | |
| XM_011527973.2:c.1167G>C | XP_011526275.1:p.Gly389= | |
| XM_011527974.2:c.1155G>C | XP_011526276.1:p.Gly385= | |
| XM_011527975.2:c.1254G>C | XP_011526277.1:p.Gly418= | |
| XM_011527976.2:c.1287G>C | XP_011526278.1:p.Gly429= | |
| XM_017026762.1:c.552G>C | XP_016882251.1:p.Gly184= | |
| NM_001290023.2:c.1134G>C | NP_001276952.1:p.Gly378= | |
| NM_005535.3:c.1134G>C MANE Select | NP_005526.1:p.Gly378= |