Linked Data
ClinVar Variation Id:
29665
ClinVar RCV Id:
RCV000022514
dbSNP Id:
rs387906614
PubMed:
PMID:20818502
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147758578G>T , CM000663.2:g.147758578G>T | GRCh38 |
| NC_000001.10:g.147230686G>T , CM000663.1:g.147230686G>T | GRCh37 |
| NC_000001.9:g.145697310G>T | NCBI36 |
| NG_009369.2:g.19797C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579774.3:c.661C>A MANE Select | ENSP00000463851.1:p.Leu221Ile | |
| ENST00000430508.1:c.661C>A | ENSP00000407645.1:p.Leu221Ile | |
| ENST00000579774.2:c.661C>A | ENSP00000463851.1:p.Leu221Ile | |
| ENST00000621517.1:c.661C>A | ENSP00000484552.1:p.Leu221Ile | |
| NM_005266.6:c.661C>A | NP_005257.2:p.Leu221Ile | |
| NM_181703.3:c.661C>A | NP_859054.1:p.Leu221Ile | |
| XM_005272951.3:c.661C>A | XP_005273008.1:p.Leu221Ile | |
| XM_011509415.1:c.661C>A | XP_011507717.1:p.Leu221Ile | |
| XR_922078.1:n.434-18983G>T | ||
| XR_922079.1:n.434-18983G>T | ||
| XM_005272951.4:c.661C>A | XP_005273008.1:p.Leu221Ile | |
| XM_017001044.1:c.661C>A | XP_016856533.1:p.Leu221Ile | |
| XR_922079.3:n.744-18983G>T | ||
| NM_181703.4:c.661C>A MANE Select | NP_859054.1:p.Leu221Ile | |
| NM_005266.7:c.661C>A | NP_005257.2:p.Leu221Ile |