Linked Data
ClinVar Variation Id:
5250
dbSNP Id:
rs74315435
ExAC:
20:25058363 C / A
gnomAD v2:
20-25058363-C-A
gnomAD v3:
20-25077727-C-A
gnomAD v4:
20-25077727-C-A
MyVariant Identifiers:
chr20:g.25058363C>A (hg19)
chr20:g.25058363_25058371delinsAGGAGTTGA (hg19)
chr20:g.25077727C>A (hg38)
chr20:g.25077727_25077735delinsAGGAGTTGA (hg38)
PubMed:
PMID:15051220
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.25077727C>A , CM000682.2:g.25077727C>A | GRCh38 |
| NC_000020.10:g.25058363C>A , CM000682.1:g.25058363C>A | GRCh37 |
| NC_000020.9:g.25006363C>A | NCBI36 |
| NG_008101.1:g.9405G>T | |
| NG_008101.2:g.9405G>T | |
| NG_008101.3:g.9455G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376709.9:c.766G>T MANE Select | ENSP00000365899.3:p.Ala256Ser | |
| ENST00000376709.8:c.766G>T | ENSP00000365899.3:p.Ala256Ser | |
| ENST00000409285.6:c.766G>T | ENSP00000386612.2:p.Ala256Ser | |
| ENST00000409958.6:c.627+1102G>T | ENSP00000387069.2:n.627+1102G>T | |
| ENST00000429762.7:c.766G>T | ENSP00000401690.3:p.Ala256Ser | |
| ENST00000444511.6:c.627+1102G>T | ENSP00000387720.2:n.627+1102G>T | |
| ENST00000557285.1:n.273G>T | ||
| NM_001256271.1:c.627+1102G>T | NP_001243200.1:n.627+1102G>T | |
| NM_001256272.1:c.766G>T | NP_001243201.1:p.Ala256Ser | |
| NM_014588.5:c.766G>T | NP_055403.2:p.Ala256Ser | |
| NR_045948.1:n.1049G>T | ||
| NR_045951.1:n.910+1102G>T | ||
| XM_017027837.1:c.766G>T | XP_016883326.1:p.Ala256Ser | |
| XM_017027838.1:c.627+1102G>T | XP_016883327.1:n.627+1102G>T | |
| NM_014588.6:c.766G>T MANE Select | NP_055403.2:p.Ala256Ser | |
| NR_165181.1:n.776G>T | ||
| NR_165182.1:n.326G>T | ||
| NR_165183.1:n.326G>T | ||
| NR_165184.1:n.326G>T | ||
| NM_001256271.2:c.627+1102G>T | NP_001243200.1:n.627+1102G>T | |
| NM_001256272.2:c.766G>T | NP_001243201.1:p.Ala256Ser | |
| NM_001378633.1:c.73G>T | NP_001365562.1:p.Ala25Ser | |
| NR_045948.2:n.811G>T | ||
| NR_045951.2:n.672+1102G>T | ||
| NR_165181.2:n.658G>T | ||
| NR_165182.2:n.326G>T | ||
| NR_165183.2:n.326G>T |