Linked Data
dbSNP Id:
rs774348853
ExAC:
8:144657147 C / T
gnomAD v2:
8-144657147-C-T
gnomAD v4:
8-143574977-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143574977C>T , CM000670.2:g.143574977C>T | GRCh38 |
| NC_000008.10:g.144657147C>T , CM000670.1:g.144657147C>T | GRCh37 |
| NC_000008.9:g.144728290C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449291.7:c.1554+9G>A MANE Select | ENSP00000401508.2:n.1554+9G>A | |
| ENST00000340490.7:c.1563G>A | ENSP00000341136.3:p.Gly521= | |
| ENST00000426292.7:c.1515+9G>A | ENSP00000390949.3:n.1515+9G>A | |
| ENST00000435154.7:c.*187G>A | ENSP00000405670.3:n.*187G>A | |
| ENST00000449291.6:c.1554+9G>A | ENSP00000401508.2:n.1554+9G>A | |
| ENST00000460623.5:c.502G>A | ||
| ENST00000464332.5:n.1098+9G>A | ||
| ENST00000498076.5:n.333+9G>A | ||
| ENST00000529179.1:n.338+9G>A | ||
| NM_001286829.1:c.1515+9G>A | NP_001273758.1:n.1515+9G>A | |
| NM_145201.5:c.1554+9G>A | NP_660202.3:n.1554+9G>A | |
| XM_011517377.1:c.1292-77G>A | XP_011515679.1:n.1292-77G>A | |
| NM_001363145.1:c.1473+9G>A | NP_001350074.1:n.1473+9G>A | |
| NM_001363146.1:c.870+9G>A | NP_001350075.1:n.870+9G>A | |
| XM_017013975.2:c.1782G>A | XP_016869464.1:p.Gly594= | |
| XM_017013976.2:c.1773+9G>A | XP_016869465.1:n.1773+9G>A | |
| XM_017013977.2:c.1482G>A | XP_016869466.1:p.Gly494= | |
| XM_017013978.2:c.1511-77G>A | XP_016869467.1:n.1511-77G>A | |
| XM_017013979.2:c.879G>A | XP_016869468.1:p.Gly293= | |
| XM_024447332.1:c.929-77G>A | XP_024303100.1:n.929-77G>A | |
| XM_024447333.1:c.798G>A | XP_024303101.1:p.Gly266= | |
| NM_145201.6:c.1554+9G>A MANE Select | NP_660202.3:n.1554+9G>A | |
| NM_001286829.2:c.1515+9G>A | NP_001273758.1:n.1515+9G>A |