dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42131915T>C , CM000684.2:g.42131915T>C | GRCh38 |
| NC_000022.10:g.42527917T>C , CM000684.1:g.42527917T>C | GRCh37 |
| NC_000022.9:g.40857861T>C | NCBI36 |
| NG_008376.3:g.3077A>G | |
| NG_008376.4:g.3896A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011529966.1:c.-1124A>G | XP_011528268.1:n.-1124A>G | |
| XM_011529967.1:c.-1045-79A>G | XP_011528269.1:n.-1045-79A>G | |
| XM_011529968.1:c.-1124A>G | XP_011528270.1:n.-1124A>G | |
| XM_011529969.1:c.-582A>G | XP_011528271.1:n.-582A>G | |
| XM_011529970.1:c.-1124A>G | XP_011528272.1:n.-1124A>G | |
| XM_011529971.1:c.-582A>G | XP_011528273.1:n.-582A>G | |
| XM_011529972.1:c.-1124A>G | XP_011528274.1:n.-1124A>G | |
| XR_430455.2:n.329-139T>C | ||
| XR_002958749.1:n.276-139T>C |