gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.38796458G>C , CM000675.2:g.38796458G>C | GRCh38 |
| NC_000013.10:g.39370595G>C , CM000675.1:g.39370595G>C | GRCh37 |
| NC_000013.9:g.38268595G>C | NCBI36 |
| NG_008125.2:g.114423G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280481.9:c.6019+11650G>C MANE Select | ENSP00000280481.7:n.6019+11650G>C | |
| ENST00000280481.8:c.6019+11650G>C | ENSP00000280481.7:n.6019+11650G>C | |
| NM_207361.5:c.6019+11650G>C | NP_997244.4:n.6019+11650G>C | |
| XM_011535057.1:c.6019+11650G>C | XP_011533359.1:n.6019+11650G>C | |
| XR_941571.1:n.6327+11650G>C | ||
| XR_941571.2:n.6323+11650G>C | ||
| NM_207361.6:c.6019+11650G>C MANE Select | NP_997244.4:n.6019+11650G>C |