Linked Data
ClinVar Variation Id:
965371
ClinVar RCV Id:
RCV001239805
dbSNP Id:
rs150261140
ExAC:
19:18180464 G / C
gnomAD v2:
19-18180464-G-C
gnomAD v3:
19-18069654-G-C
gnomAD v4:
19-18069654-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18069654G>C , CM000681.2:g.18069654G>C | GRCh38 |
| NC_000019.9:g.18180464G>C , CM000681.1:g.18180464G>C | GRCh37 |
| NC_000019.8:g.18041464G>C | NCBI36 |
| NG_007366.2:g.34296C>G , LRG_72:g.34296C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593993.7:c.1081C>G MANE Select | ENSP00000472165.2:p.Arg361Gly | |
| ENST00000593993.6:c.1081C>G | ENSP00000472165.2:p.Arg361Gly | |
| ENST00000600835.6:c.1081C>G | ENSP00000470788.1:p.Arg361Gly | |
| NM_001290023.1:c.1081C>G | NP_001276952.1:p.Arg361Gly | |
| NM_001290024.1:c.1201C>G | NP_001276953.1:p.Arg401Gly | |
| NM_005535.2:c.1081C>G | NP_005526.1:p.Arg361Gly | |
| XM_006722741.2:c.1201C>G | XP_006722804.2:p.Arg401Gly | |
| XM_011527966.1:c.1234C>G | XP_011526268.1:p.Arg412Gly | |
| XM_011527967.1:c.1222C>G | XP_011526269.1:p.Arg408Gly | |
| XM_011527968.1:c.1213C>G | XP_011526270.1:p.Arg405Gly | |
| XM_011527969.1:c.1201C>G | XP_011526271.1:p.Arg401Gly | |
| XM_011527970.1:c.1234C>G | XP_011526272.1:p.Arg412Gly | |
| XM_011527971.1:c.1234C>G | XP_011526273.1:p.Arg412Gly | |
| XM_011527972.1:c.1234C>G | XP_011526274.1:p.Arg412Gly | |
| XM_011527973.1:c.1114C>G | XP_011526275.1:p.Arg372Gly | |
| XM_011527974.1:c.1102C>G | XP_011526276.1:p.Arg368Gly | |
| XM_011527975.1:c.1201C>G | XP_011526277.1:p.Arg401Gly | |
| XM_011527976.1:c.1234C>G | XP_011526278.1:p.Arg412Gly | |
| XM_006722741.3:c.1201C>G | XP_006722804.2:p.Arg401Gly | |
| XM_011527966.2:c.1234C>G | XP_011526268.1:p.Arg412Gly | |
| XM_011527967.2:c.1222C>G | XP_011526269.1:p.Arg408Gly | |
| XM_011527968.3:c.1213C>G | XP_011526270.1:p.Arg405Gly | |
| XM_011527969.2:c.1201C>G | XP_011526271.1:p.Arg401Gly | |
| XM_011527970.2:c.1234C>G | XP_011526272.1:p.Arg412Gly | |
| XM_011527971.3:c.1234C>G | XP_011526273.1:p.Arg412Gly | |
| XM_011527972.3:c.1234C>G | XP_011526274.1:p.Arg412Gly | |
| XM_011527973.2:c.1114C>G | XP_011526275.1:p.Arg372Gly | |
| XM_011527974.2:c.1102C>G | XP_011526276.1:p.Arg368Gly | |
| XM_011527975.2:c.1201C>G | XP_011526277.1:p.Arg401Gly | |
| XM_011527976.2:c.1234C>G | XP_011526278.1:p.Arg412Gly | |
| XM_017026762.1:c.499C>G | XP_016882251.1:p.Arg167Gly | |
| NM_001290023.2:c.1081C>G | NP_001276952.1:p.Arg361Gly | |
| NM_005535.3:c.1081C>G MANE Select | NP_005526.1:p.Arg361Gly |