Linked Data
ClinVar Variation Id:
511070
dbSNP Id:
rs146450504
ExAC:
17:48271521 G / A
gnomAD v2:
17-48271521-G-A
gnomAD v3:
17-50194160-G-A
gnomAD v4:
17-50194160-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50194160G>A , CM000679.2:g.50194160G>A | GRCh38 |
| NC_000017.10:g.48271521G>A , CM000679.1:g.48271521G>A | GRCh37 |
| NC_000017.9:g.45626520G>A | NCBI36 |
| NG_007400.1:g.12480C>T , LRG_1:g.12480C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225964.10:c.1638C>T MANE Select | ENSP00000225964.6:p.Ser546= | |
| ENST00000225964.9:c.1638C>T | ENSP00000225964.5:p.Ser546= | |
| ENST00000463440.1:n.28C>T | ||
| ENST00000471344.1:n.582C>T | ||
| NM_000088.3:c.1638C>T , LRG_1t1:c.1638C>T | NP_000079.2:p.Ser546= | |
| XM_005257058.3:c.1638C>T | XP_005257115.2:p.Ser546= | |
| XM_005257059.3:c.958-1467C>T | XP_005257116.2:n.958-1467C>T | |
| XM_011524341.1:c.1440C>T | XP_011522643.1:p.Ser480= | |
| XM_005257058.4:c.1638C>T | XP_005257115.2:p.Ser546= | |
| XM_005257059.4:c.958-1467C>T | XP_005257116.2:n.958-1467C>T | |
| NM_000088.4:c.1638C>T MANE Select | NP_000079.2:p.Ser546= |