Linked Data
ClinVar Variation Id:
2873471
ClinVar RCV Id:
RCV003709920
dbSNP Id:
rs185454855
ExAC:
18:12353095 G / A
gnomAD v2:
18-12353095-G-A
gnomAD v3:
18-12353096-G-A
gnomAD v4:
18-12353096-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12353096G>A , CM000680.2:g.12353096G>A | GRCh38 |
| NC_000018.9:g.12353095G>A , CM000680.1:g.12353095G>A | GRCh37 |
| NC_000018.8:g.12343095G>A | NCBI36 |
| NG_023361.1:g.29181C>T , LRG_666:g.29181C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687337.1:c.*823C>T | ENSP00000508998.1:n.*823C>T | |
| ENST00000688199.1:c.1089C>T | ENSP00000510237.1:p.Ile363= | |
| ENST00000691179.1:c.1152C>T | ENSP00000509010.1:p.Ile384= | |
| ENST00000691970.1:c.*604C>T | ENSP00000508440.1:n.*604C>T | |
| ENST00000692497.1:c.1227C>T | ENSP00000509870.1:p.Ile409= | |
| ENST00000692988.1:n.1045C>T | ||
| ENST00000269143.8:c.1227C>T MANE Select | ENSP00000269143.2:p.Ile409= | |
| ENST00000269143.7:c.1227C>T | ENSP00000269143.2:p.Ile409= | |
| NM_006796.2:c.1227C>T , LRG_666t1:c.1227C>T | NP_006787.2:p.Ile409= | |
| XM_011525601.1:c.1227C>T | XP_011523903.1:p.Ile409= | |
| XM_011525601.3:c.1227C>T | XP_011523903.1:p.Ile409= | |
| NM_006796.3:c.1227C>T MANE Select | NP_006787.2:p.Ile409= |