dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109669323G>C , CM000666.2:g.109669323G>C | GRCh38 |
| NC_000004.11:g.110590479G>C , CM000666.1:g.110590479G>C | GRCh37 |
| NC_000004.10:g.110809928G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394650.7:c.451+4929G>C MANE Select | ENSP00000378145.4:n.451+4929G>C | |
| ENST00000394650.6:c.451+4929G>C | ENSP00000378145.4:n.451+4929G>C | |
| ENST00000452915.3:n.546+4929G>C | ||
| ENST00000472310.5:n.580+4929G>C | ||
| NM_017918.4:c.451+4929G>C | NP_060388.2:n.451+4929G>C | |
| XM_006714246.2:c.364+4929G>C | XP_006714309.1:n.364+4929G>C | |
| XM_006714246.3:c.364+4929G>C | XP_006714309.1:n.364+4929G>C | |
| NM_017918.5:c.451+4929G>C MANE Select | NP_060388.2:n.451+4929G>C |