Linked Data
ClinVar Variation Id:
661227
ClinVar RCV Id:
RCV000818600
dbSNP Id:
rs376047287
ExAC:
17:48270393 C / A
gnomAD v2:
17-48270393-C-A
gnomAD v3:
17-50193032-C-A
gnomAD v4:
17-50193032-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50193032C>A , CM000679.2:g.50193032C>A | GRCh38 |
| NC_000017.10:g.48270393C>A , CM000679.1:g.48270393C>A | GRCh37 |
| NC_000017.9:g.45625392C>A | NCBI36 |
| NG_007400.1:g.13608G>T , LRG_1:g.13608G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1783G>T MANE Select | ENSP00000225964.6:p.Ala595Ser | |
| ENST00000225964.9:c.1783G>T | ENSP00000225964.5:p.Ala595Ser | |
| ENST00000476387.1:n.132G>T | ||
| NM_000088.3:c.1783G>T , LRG_1t1:c.1783G>T | NP_000079.2:p.Ala595Ser | |
| XM_005257058.3:c.1783G>T | XP_005257115.2:p.Ala595Ser | |
| XM_005257059.3:c.958-339G>T | XP_005257116.2:n.958-339G>T | |
| XM_011524341.1:c.1585G>T | XP_011522643.1:p.Ala529Ser | |
| XM_005257058.4:c.1783G>T | XP_005257115.2:p.Ala595Ser | |
| XM_005257059.4:c.958-339G>T | XP_005257116.2:n.958-339G>T | |
| NM_000088.4:c.1783G>T MANE Select | NP_000079.2:p.Ala595Ser |