Linked Data
dbSNP Id:
rs2300835
gnomAD v2:
14-33207522-C-A
gnomAD v3:
14-32738316-C-A
gnomAD v4:
14-32738316-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.32738316C>A , CM000676.2:g.32738316C>A | GRCh38 |
| NC_000014.8:g.33207522C>A , CM000676.1:g.33207522C>A | GRCh37 |
| NC_000014.7:g.32277273C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280979.9:c.3372+2434C>A MANE Select | ENSP00000280979.4:n.3372+2434C>A | |
| ENST00000280979.8:c.3372+2434C>A | ENSP00000280979.4:n.3372+2434C>A | |
| ENST00000554740.1:c.32+2434C>A | ||
| ENST00000555207.5:n.744+2434C>A | ||
| ENST00000556540.1:n.349+2434C>A | ||
| ENST00000557272.1:c.3372+2434C>A | ENSP00000451247.1:n.3372+2434C>A | |
| NM_004274.4:c.3372+2434C>A | NP_004265.3:n.3372+2434C>A | |
| XM_005268219.3:c.3375+2434C>A | XP_005268276.1:n.3375+2434C>A | |
| XM_011537378.1:c.660+2434C>A | XP_011535680.1:n.660+2434C>A | |
| XM_011537379.1:c.591+2434C>A | XP_011535681.1:n.591+2434C>A | |
| XM_011537380.1:c.591+2434C>A | XP_011535682.1:n.591+2434C>A | |
| XM_011537381.1:c.441+2434C>A | XP_011535683.1:n.441+2434C>A | |
| XM_011537382.1:c.441+2434C>A | XP_011535684.1:n.441+2434C>A | |
| XM_011537383.1:c.357+2434C>A | XP_011535685.1:n.357+2434C>A | |
| XM_011537378.3:c.660+2434C>A | XP_011535680.1:n.660+2434C>A | |
| XM_011537379.3:c.591+2434C>A | XP_011535681.1:n.591+2434C>A | |
| XM_011537383.3:c.357+2434C>A | XP_011535685.1:n.357+2434C>A | |
| XM_017021808.2:c.3375+2434C>A | XP_016877297.1:n.3375+2434C>A | |
| XM_017021811.2:c.660+2434C>A | XP_016877300.1:n.660+2434C>A | |
| XM_024449754.1:c.3375+2434C>A | XP_024305522.1:n.3375+2434C>A | |
| XM_024449755.1:c.3375+2434C>A | XP_024305523.1:n.3375+2434C>A | |
| XM_024449756.1:c.3375+2434C>A | XP_024305524.1:n.3375+2434C>A | |
| XM_024449757.1:c.3375+2434C>A | XP_024305525.1:n.3375+2434C>A | |
| NM_004274.5:c.3372+2434C>A MANE Select | NP_004265.3:n.3372+2434C>A |