Linked Data
ClinVar Variation Id:
8033
ClinVar RCV Id:
RCV000008498
dbSNP Id:
rs121434493
gnomAD v2:
19-18180419-G-A
gnomAD v4:
19-18069609-G-A
PubMed:
PMID:9603733
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18069609G>A , CM000681.2:g.18069609G>A | GRCh38 |
| NC_000019.9:g.18180419G>A , CM000681.1:g.18180419G>A | GRCh37 |
| NC_000019.8:g.18041419G>A | NCBI36 |
| NG_007366.2:g.34341C>T , LRG_72:g.34341C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000593993.7:c.1126C>T MANE Select | ENSP00000472165.2:p.Gln376Ter | |
| ENST00000593993.6:c.1126C>T | ENSP00000472165.2:p.Gln376Ter | |
| ENST00000600835.6:c.1126C>T | ENSP00000470788.1:p.Gln376Ter | |
| NM_001290023.1:c.1126C>T | NP_001276952.1:p.Gln376Ter | |
| NM_001290024.1:c.1246C>T | NP_001276953.1:p.Gln416Ter | |
| NM_005535.2:c.1126C>T | NP_005526.1:p.Gln376Ter | |
| XM_006722741.2:c.1246C>T | XP_006722804.2:p.Gln416Ter | |
| XM_011527966.1:c.1279C>T | XP_011526268.1:p.Gln427Ter | |
| XM_011527967.1:c.1267C>T | XP_011526269.1:p.Gln423Ter | |
| XM_011527968.1:c.1258C>T | XP_011526270.1:p.Gln420Ter | |
| XM_011527969.1:c.1246C>T | XP_011526271.1:p.Gln416Ter | |
| XM_011527970.1:c.1279C>T | XP_011526272.1:p.Gln427Ter | |
| XM_011527971.1:c.1279C>T | XP_011526273.1:p.Gln427Ter | |
| XM_011527972.1:c.1279C>T | XP_011526274.1:p.Gln427Ter | |
| XM_011527973.1:c.1159C>T | XP_011526275.1:p.Gln387Ter | |
| XM_011527974.1:c.1147C>T | XP_011526276.1:p.Gln383Ter | |
| XM_011527975.1:c.1246C>T | XP_011526277.1:p.Gln416Ter | |
| XM_011527976.1:c.1279C>T | XP_011526278.1:p.Gln427Ter | |
| XM_006722741.3:c.1246C>T | XP_006722804.2:p.Gln416Ter | |
| XM_011527966.2:c.1279C>T | XP_011526268.1:p.Gln427Ter | |
| XM_011527967.2:c.1267C>T | XP_011526269.1:p.Gln423Ter | |
| XM_011527968.3:c.1258C>T | XP_011526270.1:p.Gln420Ter | |
| XM_011527969.2:c.1246C>T | XP_011526271.1:p.Gln416Ter | |
| XM_011527970.2:c.1279C>T | XP_011526272.1:p.Gln427Ter | |
| XM_011527971.3:c.1279C>T | XP_011526273.1:p.Gln427Ter | |
| XM_011527972.3:c.1279C>T | XP_011526274.1:p.Gln427Ter | |
| XM_011527973.2:c.1159C>T | XP_011526275.1:p.Gln387Ter | |
| XM_011527974.2:c.1147C>T | XP_011526276.1:p.Gln383Ter | |
| XM_011527975.2:c.1246C>T | XP_011526277.1:p.Gln416Ter | |
| XM_011527976.2:c.1279C>T | XP_011526278.1:p.Gln427Ter | |
| XM_017026762.1:c.544C>T | XP_016882251.1:p.Gln182Ter | |
| NM_001290023.2:c.1126C>T | NP_001276952.1:p.Gln376Ter | |
| NM_005535.3:c.1126C>T MANE Select | NP_005526.1:p.Gln376Ter |