gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00018043 (NFE)
Genomes Max Group AF
0.00013497 (NFE)
Exomes Max Group AF
0.00017844 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94425767T>C , CM000669.2:g.94425767T>C | GRCh38 |
| NC_000007.13:g.94055079T>C , CM000669.1:g.94055079T>C | GRCh37 |
| NC_000007.12:g.93893015T>C | NCBI36 |
| NG_007405.1:g.36207T>C , LRG_2:g.36207T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2853T>C MANE Select | ENSP00000297268.6:p.Pro951= | |
| ENST00000297268.10:c.2853T>C | ENSP00000297268.6:p.Pro951= | |
| ENST00000469732.1:n.636T>C | ||
| ENST00000478215.1:n.412T>C | ||
| ENST00000481570.5:n.2826T>C | ||
| ENST00000620463.1:c.2847T>C | ENSP00000477719.1:p.Pro949= | |
| NM_000089.3:c.2853T>C , LRG_2t1:c.2853T>C | NP_000080.2:p.Pro951= | |
| NM_000089.4:c.2853T>C MANE Select | NP_000080.2:p.Pro951= |