gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002332 (SAS)
Exomes Max Group AF
0.00001674 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151006827G>C , CM000669.2:g.151006827G>C | GRCh38 |
| NC_000007.13:g.150703915G>C , CM000669.1:g.150703915G>C | GRCh37 |
| NC_000007.12:g.150334848G>C | NCBI36 |
| NG_011992.1:g.20769G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297494.8:c.1821-62G>C MANE Select | ENSP00000297494.3:n.1821-62G>C | |
| ENST00000297494.7:c.1821-62G>C | ENSP00000297494.3:n.1821-62G>C | |
| ENST00000461406.5:c.1203-62G>C | ENSP00000417143.1:n.1203-62G>C | |
| NM_000603.4:c.1821-62G>C | NP_000594.2:n.1821-62G>C | |
| XM_006716002.2:c.1821-62G>C | XP_006716065.1:n.1821-62G>C | |
| NM_000603.5:c.1821-62G>C MANE Select | NP_000594.2:n.1821-62G>C |