Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208124107C>G , CM000664.2:g.208124107C>G | GRCh38 |
| NC_000002.11:g.208988831C>G , CM000664.1:g.208988831C>G | GRCh37 |
| NC_000002.10:g.208697076C>G | NCBI36 |
| NG_008039.1:g.5483G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264376.5:c.252+5G>C MANE Select | ENSP00000264376.4:n.252+5G>C | |
| ENST00000264376.4:c.252+5G>C | ENSP00000264376.4:n.252+5G>C | |
| NM_006891.3:c.252+5G>C | NP_008822.2:n.252+5G>C | |
| NR_038437.1:n.97+4882C>G | ||
| NM_006891.4:c.252+5G>C MANE Select | NP_008822.2:n.252+5G>C |