Linked Data
dbSNP Id:
rs17881144
gnomAD v2:
3-3145371-A-T
gnomAD v3:
3-3103687-A-T
gnomAD v4:
3-3103687-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.3103687A>T , CM000665.2:g.3103687A>T | GRCh38 |
| NC_000003.11:g.3145371A>T , CM000665.1:g.3145371A>T | GRCh37 |
| NC_000003.10:g.3120371A>T | NCBI36 |
| NG_029547.1:g.11688T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000446632.7:c.83-867T>A MANE Select | ENSP00000412209.2:n.83-867T>A | |
| ENST00000256452.7:c.83-867T>A | ENSP00000256452.3:n.83-867T>A | |
| ENST00000311981.12:c.83-867T>A | ENSP00000309196.8:n.83-867T>A | |
| ENST00000383846.5:c.83-867T>A | ENSP00000373358.1:n.83-867T>A | |
| ENST00000418488.6:c.83-867T>A | ENSP00000388858.2:n.83-867T>A | |
| ENST00000427088.1:c.83-867T>A | ENSP00000391274.1:n.83-867T>A | |
| ENST00000430514.6:c.83-867T>A | ENSP00000400400.2:n.83-867T>A | |
| ENST00000438560.5:c.83-867T>A | ENSP00000390753.1:n.83-867T>A | |
| ENST00000445701.5:c.83-867T>A | ENSP00000398117.1:n.83-867T>A | |
| ENST00000446632.6:c.83-867T>A | ENSP00000412209.2:n.83-867T>A | |
| ENST00000456302.5:c.83-867T>A | ENSP00000392059.1:n.83-867T>A | |
| NM_000564.4:c.83-867T>A | NP_000555.2:n.83-867T>A | |
| NM_001243099.1:c.83-867T>A | NP_001230028.1:n.83-867T>A | |
| NM_175724.2:c.83-867T>A | NP_783851.1:n.83-867T>A | |
| NM_175725.2:c.83-867T>A | NP_783852.1:n.83-867T>A | |
| NM_175726.3:c.83-867T>A | NP_783853.1:n.83-867T>A | |
| NM_175727.2:c.83-867T>A | NP_783854.1:n.83-867T>A | |
| NM_175728.2:c.83-867T>A | NP_783855.1:n.83-867T>A | |
| XM_011533677.1:c.83-867T>A | XP_011531979.1:n.83-867T>A | |
| XM_011533678.1:c.83-867T>A | XP_011531980.1:n.83-867T>A | |
| XM_011533679.1:c.83-867T>A | XP_011531981.1:n.83-867T>A | |
| XM_011533677.2:c.83-867T>A | XP_011531979.1:n.83-867T>A | |
| XM_011533678.2:c.83-867T>A | XP_011531980.1:n.83-867T>A | |
| NM_000564.5:c.83-867T>A | NP_000555.2:n.83-867T>A | |
| NM_001243099.2:c.83-867T>A | NP_001230028.1:n.83-867T>A | |
| NM_175725.3:c.83-867T>A | NP_783852.1:n.83-867T>A | |
| NM_175726.4:c.83-867T>A MANE Select | NP_783853.1:n.83-867T>A | |
| NM_175728.3:c.83-867T>A | NP_783855.1:n.83-867T>A |