Linked Data
ClinVar Variation Id:
138842
ClinVar RCV Id:
RCV001474997
dbSNP Id:
rs587781132
ExAC:
12:112939968 C / T
gnomAD v2:
12-112939968-C-T
gnomAD v3:
12-112502164-C-T
gnomAD v4:
12-112502164-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112502164C>T , CM000674.2:g.112502164C>T | GRCh38 |
| NC_000012.11:g.112939968C>T , CM000674.1:g.112939968C>T | GRCh37 |
| NC_000012.10:g.111424351C>T | NCBI36 |
| NG_007459.1:g.88433C>T , LRG_614:g.88433C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000639857.2:c.1620C>T | ENSP00000491593.2:p.His540= | |
| ENST00000685487.1:c.*822C>T | ENSP00000508503.1:n.*822C>T | |
| ENST00000687120.1:n.1003C>T | ||
| ENST00000687906.1:c.1506C>T | ENSP00000509536.1:p.His502= | |
| ENST00000688597.1:c.1245C>T | ENSP00000510628.1:p.His415= | |
| ENST00000688701.1:n.864C>T | ||
| ENST00000690210.1:c.1620C>T | ENSP00000509272.1:p.His540= | |
| ENST00000690472.1:n.829C>T | ||
| ENST00000692624.1:c.*166C>T | ENSP00000508953.1:n.*166C>T | |
| ENST00000351677.7:c.1620C>T MANE Select | ENSP00000340944.3:p.His540= | |
| ENST00000351677.6:c.1620C>T | ENSP00000340944.2:p.His540= | |
| ENST00000635625.1:c.1632C>T | ENSP00000489597.1:p.His544= | |
| NM_002834.3:c.1620C>T , LRG_614t1:c.1620C>T | NP_002825.3:p.His540= | |
| XM_006719526.1:c.1632C>T | XP_006719589.1:p.His544= | |
| XM_006719527.1:c.1518C>T | XP_006719590.1:p.His506= | |
| XM_011538613.1:c.1629C>T | XP_011536915.1:p.His543= | |
| NM_001330437.1:c.1632C>T | NP_001317366.1:p.His544= | |
| NM_002834.4:c.1620C>T | NP_002825.3:p.His540= | |
| XM_011538613.2:c.1629C>T | XP_011536915.1:p.His543= | |
| XM_017019722.1:c.1617C>T | XP_016875211.1:p.His539= | |
| NM_001330437.2:c.1632C>T | NP_001317366.1:p.His544= | |
| NM_001374625.1:c.1617C>T | NP_001361554.1:p.His539= | |
| NM_002834.5:c.1620C>T MANE Select | NP_002825.3:p.His540= |