Linked Data
ClinVar Variation Id:
292447
ClinVar RCV Id:
RCV000302141
dbSNP Id:
rs886045250
gnomAD v2:
1-147230279-T-C
gnomAD v3:
1-147758171-T-C
gnomAD v4:
1-147758171-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147758171T>C , CM000663.2:g.147758171T>C | GRCh38 |
| NC_000001.10:g.147230279T>C , CM000663.1:g.147230279T>C | GRCh37 |
| NC_000001.9:g.145696903T>C | NCBI36 |
| NG_009369.2:g.20204A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000579774.3:c.1068A>G MANE Select | ENSP00000463851.1:p.Leu356= | |
| ENST00000579774.2:c.1068A>G | ENSP00000463851.1:p.Leu356= | |
| ENST00000621517.1:c.1068A>G | ENSP00000484552.1:p.Leu356= | |
| NM_005266.6:c.1068A>G | NP_005257.2:p.Leu356= | |
| NM_181703.3:c.1068A>G | NP_859054.1:p.Leu356= | |
| XM_005272951.3:c.1068A>G | XP_005273008.1:p.Leu356= | |
| XM_011509415.1:c.1068A>G | XP_011507717.1:p.Leu356= | |
| XR_922078.1:n.434-19390T>C | ||
| XR_922079.1:n.434-19390T>C | ||
| XM_005272951.4:c.1068A>G | XP_005273008.1:p.Leu356= | |
| XM_017001044.1:c.1068A>G | XP_016856533.1:p.Leu356= | |
| XR_922079.3:n.744-19390T>C | ||
| NM_181703.4:c.1068A>G MANE Select | NP_859054.1:p.Leu356= | |
| NM_005266.7:c.1068A>G | NP_005257.2:p.Leu356= |