Linked Data
dbSNP Id:
rs1401307317
gnomAD v2:
20-33907144-G-A
gnomAD v3:
20-35319341-G-A
gnomAD v4:
20-35319341-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35319341G>A , CM000682.2:g.35319341G>A | GRCh38 |
| NC_000020.10:g.33907144G>A , CM000682.1:g.33907144G>A | GRCh37 |
| NC_000020.9:g.33370558G>A | NCBI36 |
| NG_021421.1:g.97802C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453855.6:c.268-4634C>T | ENSP00000390334.2:n.268-4634C>T | |
| ENST00000374385.10:c.574-4576C>T MANE Select | ENSP00000363506.5:n.574-4576C>T | |
| ENST00000349714.9:c.493-4576C>T | ENSP00000335364.6:n.493-4576C>T | |
| ENST00000359226.6:c.334-4576C>T | ENSP00000352161.2:n.334-4576C>T | |
| ENST00000374380.6:c.370-4576C>T | ENSP00000363501.2:n.370-4576C>T | |
| ENST00000374384.6:c.574-12562C>T | ENSP00000363505.2:n.574-12562C>T | |
| ENST00000374385.9:c.574-4576C>T | ENSP00000363506.5:n.574-4576C>T | |
| ENST00000374394.7:c.*555-4576C>T | ENSP00000363515.3:n.*555-4576C>T | |
| ENST00000397556.7:c.355-4576C>T | ENSP00000380688.4:n.355-4576C>T | |
| ENST00000424405.5:c.478-4576C>T | ENSP00000399713.1:n.478-4576C>T | |
| ENST00000438533.5:c.616-4576C>T | ENSP00000398531.1:n.616-4576C>T | |
| ENST00000443429.5:c.*126-4576C>T | ENSP00000416246.1:n.*126-4576C>T | |
| ENST00000453855.5:c.265-4634C>T | ENSP00000390334.1:n.265-4634C>T | |
| ENST00000457259.5:c.292-4576C>T | ||
| ENST00000497717.5:n.64-4576C>T | ||
| NM_001184977.1:c.370-4576C>T | NP_001171906.1:n.370-4576C>T | |
| NM_018244.4:c.574-4576C>T | NP_060714.3:n.574-4576C>T | |
| NM_199487.2:c.574-12562C>T | NP_955781.2:n.574-12562C>T | |
| XM_011528877.1:c.616-4576C>T | XP_011527179.1:n.616-4576C>T | |
| XM_011528878.1:c.478-4576C>T | XP_011527180.1:n.478-4576C>T | |
| XM_011528879.1:c.436-4576C>T | XP_011527181.1:n.436-4576C>T | |
| XM_011528880.1:c.436-4576C>T | XP_011527182.1:n.436-4576C>T | |
| XM_011528881.1:c.277-4576C>T | XP_011527183.1:n.277-4576C>T | |
| XM_011528882.1:c.172-4576C>T | XP_011527184.1:n.172-4576C>T | |
| XM_011528883.1:c.172-4576C>T | XP_011527185.1:n.172-4576C>T | |
| XM_011528884.1:c.172-4576C>T | XP_011527186.1:n.172-4576C>T | |
| XM_011528878.2:c.478-4576C>T | XP_011527180.1:n.478-4576C>T | |
| XM_011528880.2:c.436-4576C>T | XP_011527182.1:n.436-4576C>T | |
| XM_011528881.3:c.277-4576C>T | XP_011527183.1:n.277-4576C>T | |
| XM_011528882.2:c.172-4576C>T | XP_011527184.1:n.172-4576C>T | |
| XM_011528883.2:c.172-4576C>T | XP_011527185.1:n.172-4576C>T | |
| XM_011528884.2:c.172-4576C>T | XP_011527186.1:n.172-4576C>T | |
| NM_018244.5:c.574-4576C>T MANE Select | NP_060714.3:n.574-4576C>T | |
| NM_001184977.2:c.370-4576C>T | NP_001171906.1:n.370-4576C>T | |
| NM_199487.3:c.574-12562C>T | NP_955781.2:n.574-12562C>T |