gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10931365 (AFR)
Genomes Max Group AF
0.10931365 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215064402G>A , CM000664.2:g.215064402G>A | GRCh38 |
| NC_000002.11:g.215929125G>A , CM000664.1:g.215929125G>A | GRCh37 |
| NC_000002.10:g.215637370G>A | NCBI36 |
| NG_007074.1:g.79027C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.164-183C>T MANE Select | ENSP00000272895.7:n.164-183C>T | |
| ENST00000272895.11:c.164-183C>T | ENSP00000272895.7:n.164-183C>T | |
| NM_173076.2:c.164-183C>T | NP_775099.2:n.164-183C>T | |
| NR_103740.1:n.384-183C>T | ||
| XM_011510951.1:c.164-183C>T | XP_011509253.1:n.164-183C>T | |
| XM_011510952.1:c.164-183C>T | XP_011509254.1:n.164-183C>T | |
| XM_011510951.2:c.164-183C>T | XP_011509253.1:n.164-183C>T | |
| NM_173076.3:c.164-183C>T MANE Select | NP_775099.2:n.164-183C>T | |
| NR_103740.2:n.582-183C>T |