gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42144633 (SAS)
Genomes Max Group AF
0.42144633 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55112043C>T , CM000666.2:g.55112043C>T | GRCh38 |
| NC_000004.11:g.55978210C>T , CM000666.1:g.55978210C>T | GRCh37 |
| NC_000004.10:g.55672967C>T | NCBI36 |
| NG_012004.1:g.18553G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.976+1261G>A MANE Select | ENSP00000263923.4:n.976+1261G>A | |
| ENST00000647068.1:n.989+1261G>A | ||
| ENST00000263923.4:c.976+1261G>A | ENSP00000263923.4:n.976+1261G>A | |
| ENST00000512566.1:n.976+1261G>A | ||
| NM_002253.2:c.976+1261G>A | NP_002244.1:n.976+1261G>A | |
| NM_002253.3:c.976+1261G>A | NP_002244.1:n.976+1261G>A | |
| NM_002253.4:c.976+1261G>A MANE Select | NP_002244.1:n.976+1261G>A |