dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.9177254G>C , CM000679.2:g.9177254G>C | GRCh38 |
| NC_000017.10:g.9080571G>C , CM000679.1:g.9080571G>C | GRCh37 |
| NC_000017.9:g.9021296G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000173229.7:c.1208-2553G>C MANE Select | ENSP00000173229.2:n.1208-2553G>C | |
| ENST00000173229.6:c.1208-2553G>C | ENSP00000173229.2:n.1208-2553G>C | |
| ENST00000436734.1:c.68-2553G>C | ENSP00000389375.2:n.68-2553G>C | |
| NM_004822.2:c.1208-2553G>C | NP_004813.2:n.1208-2553G>C | |
| NR_110828.1:n.763C>G | ||
| XM_006721595.2:c.1208-2553G>C | XP_006721658.1:n.1208-2553G>C | |
| XM_006721595.3:c.1208-2553G>C | XP_006721658.1:n.1208-2553G>C | |
| NM_004822.3:c.1208-2553G>C MANE Select | NP_004813.2:n.1208-2553G>C |