dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150750021G>C , CM000665.2:g.150750021G>C | GRCh38 |
| NC_000003.11:g.150467808G>C , CM000665.1:g.150467808G>C | GRCh37 |
| NC_000003.10:g.151950498G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312960.4:c.418-7323C>G MANE Select | ENSP00000322457.3:n.418-7323C>G | |
| ENST00000312960.3:c.418-7323C>G | ENSP00000322457.3:n.418-7323C>G | |
| ENST00000482706.1:c.40-7323C>G | ENSP00000417619.1:n.40-7323C>G | |
| NM_005067.5:c.418-7323C>G | NP_005058.3:n.418-7323C>G | |
| NM_005067.6:c.418-7323C>G | NP_005058.3:n.418-7323C>G | |
| NM_005067.7:c.418-7323C>G MANE Select | NP_005058.3:n.418-7323C>G |