dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.96365294G>C , CM000675.2:g.96365294G>C | GRCh38 |
| NC_000013.10:g.97017548G>C , CM000675.1:g.97017548G>C | GRCh37 |
| NC_000013.9:g.95815549G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376705.4:c.707+273725G>C MANE Select | ENSP00000365895.2:n.707+273725G>C | |
| ENST00000376705.3:c.707+273725G>C | ENSP00000365895.2:n.707+273725G>C | |
| NM_153456.3:c.707+273725G>C | NP_703157.2:n.707+273725G>C | |
| XM_011521073.1:c.708-267781G>C | XP_011519375.1:n.708-267781G>C | |
| XM_017020543.2:c.708-122921G>C | XP_016876032.1:n.708-122921G>C | |
| NM_153456.4:c.707+273725G>C MANE Select | NP_703157.2:n.707+273725G>C |