Linked Data
ClinVar Variation Id:
214781
dbSNP Id:
rs201034481
ExAC:
2:207014618 C / T
gnomAD v2:
2-207014618-C-T
gnomAD v3:
2-206149894-C-T
gnomAD v4:
2-206149894-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206149894C>T , CM000664.2:g.206149894C>T | GRCh38 |
| NC_000002.11:g.207014618C>T , CM000664.1:g.207014618C>T | GRCh37 |
| NC_000002.10:g.206722863C>T | NCBI36 |
| NG_009248.1:g.14570G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233190.11:c.185G>A MANE Select | ENSP00000233190.5:p.Arg62Gln | |
| ENST00000233190.10:c.185G>A | ENSP00000233190.5:p.Arg62Gln | |
| ENST00000423725.5:c.14G>A | ENSP00000397760.1:p.Arg5Gln | |
| ENST00000432169.5:c.6-2060G>A | ENSP00000409689.1:n.6-2060G>A | |
| ENST00000440274.5:c.154-798G>A | ENSP00000409766.1:n.154-798G>A | |
| ENST00000449699.5:c.185G>A | ENSP00000399912.1:p.Arg62Gln | |
| ENST00000454195.1:c.185G>A | ENSP00000389413.1:p.Arg62Gln | |
| ENST00000455934.6:c.227G>A | ENSP00000392709.2:p.Arg76Gln | |
| ENST00000456284.5:c.185G>A | ENSP00000395553.1:p.Arg62Gln | |
| ENST00000457011.5:c.-10-2060G>A | ENSP00000400976.1:n.-10-2060G>A | |
| NM_001199981.1:c.154-798G>A | NP_001186910.1:n.154-798G>A | |
| NM_001199982.1:c.6-2060G>A | NP_001186911.1:n.6-2060G>A | |
| NM_001199983.1:c.14G>A | NP_001186912.1:p.Arg5Gln | |
| NM_001199984.1:c.227G>A | NP_001186913.1:p.Arg76Gln | |
| NM_005006.6:c.185G>A | NP_004997.4:p.Arg62Gln | |
| XM_017004188.2:c.-606G>A | XP_016859677.1:n.-606G>A | |
| NM_001199981.2:c.154-798G>A | NP_001186910.1:n.154-798G>A | |
| NM_001199982.2:c.6-2060G>A | NP_001186911.1:n.6-2060G>A | |
| NM_001199983.2:c.14G>A | NP_001186912.1:p.Arg5Gln | |
| NM_005006.7:c.185G>A MANE Select | NP_004997.4:p.Arg62Gln | |
| NM_001199984.2:c.227G>A | NP_001186913.1:p.Arg76Gln |