Linked Data
ClinVar Variation Id:
304993
dbSNP Id:
rs770306617
ExAC:
11:47600844 T / C
gnomAD v2:
11-47600844-T-C
gnomAD v3:
11-47579292-T-C
gnomAD v4:
11-47579292-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47579292T>C , CM000673.2:g.47579292T>C | GRCh38 |
| NC_000011.9:g.47600844T>C , CM000673.1:g.47600844T>C | GRCh37 |
| NC_000011.8:g.47557420T>C | NCBI36 |
| NG_011946.1:g.5283T>C | |
| NG_011946.2:g.5283T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263774.9:c.91T>C MANE Select | ENSP00000263774.4:p.Leu31= | |
| ENST00000531351.2:n.44T>C | ||
| ENST00000677462.1:n.60T>C | ||
| ENST00000678975.1:n.55T>C | ||
| ENST00000263774.8:c.91T>C | ENSP00000263774.4:p.Leu31= | |
| ENST00000524568.1:n.194T>C | ||
| ENST00000528192.5:c.91T>C | ENSP00000432099.1:p.Leu31= | |
| ENST00000529276.1:c.91T>C | ENSP00000433753.1:p.Leu31= | |
| ENST00000530295.5:c.67+134T>C | ENSP00000431588.1:n.67+134T>C | |
| ENST00000531351.1:n.25T>C | ||
| ENST00000533105.1:n.208T>C | ||
| ENST00000533507.5:n.816-1233T>C | ||
| ENST00000534208.5:c.91T>C | ENSP00000433405.1:p.Leu31= | |
| ENST00000534716.2:c.91T>C | ENSP00000434970.2:p.Leu31= | |
| NM_004551.2:c.91T>C | NP_004542.1:p.Leu31= | |
| NM_004551.3:c.91T>C MANE Select | NP_004542.1:p.Leu31= |