gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62631615G>C , CM000672.2:g.62631615G>C | GRCh38 |
| NC_000010.10:g.64391375G>C , CM000672.1:g.64391375G>C | GRCh37 |
| NC_000010.9:g.64061381G>C | NCBI36 |
| NG_021209.1:g.262460G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647733.1:c.1129+8365G>C | ENSP00000502188.1:n.1129+8365G>C | |
| ENST00000395251.5:c.-184-12127G>C | ENSP00000378672.1:n.-184-12127G>C | |
| ENST00000410046.7:c.1129+8365G>C | ENSP00000387091.3:n.1129+8365G>C | |
| NM_199451.2:c.1129+8365G>C | NP_955523.1:n.1129+8365G>C | |
| NM_199452.3:c.-184-12127G>C | NP_955524.3:n.-184-12127G>C | |
| XR_946002.1:n.82-6492C>G | ||
| XR_946002.2:n.82-6492C>G | ||
| NM_199451.3:c.1129+8365G>C | NP_955523.1:n.1129+8365G>C |