dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.38795435C>G , CM000669.2:g.38795435C>G | GRCh38 |
| NC_000007.13:g.38835035C>G , CM000669.1:g.38835035C>G | GRCh37 |
| NC_000007.12:g.38801560C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310301.9:c.717+30G>C MANE Select | ENSP00000309457.4:n.717+30G>C | |
| ENST00000310301.8:c.717+30G>C | ENSP00000309457.4:n.717+30G>C | |
| ENST00000395969.6:c.642+30G>C | ENSP00000379297.2:n.642+30G>C | |
| ENST00000466017.1:n.257+30G>C | ||
| NM_014396.3:c.717+30G>C | NP_055211.2:n.717+30G>C | |
| NM_080631.3:c.642+30G>C | NP_542198.2:n.642+30G>C | |
| XR_926930.1:n.743+30G>C | ||
| XR_926930.3:n.743+30G>C | ||
| NM_014396.4:c.717+30G>C MANE Select | NP_055211.2:n.717+30G>C | |
| NM_080631.4:c.642+30G>C | NP_542198.2:n.642+30G>C |