dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.36503743C>G , CM000673.2:g.36503743C>G | GRCh38 |
| NC_000011.9:g.36525293C>G , CM000673.1:g.36525293C>G | GRCh37 |
| NC_000011.8:g.36481869C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526995.6:c.-22-2206G>C MANE Select | ENSP00000433623.1:n.-22-2206G>C | |
| ENST00000348124.5:c.-115-1932G>C | ENSP00000337853.5:n.-115-1932G>C | |
| ENST00000526995.5:c.-22-2206G>C | ENSP00000433623.1:n.-22-2206G>C | |
| NM_004620.3:c.-22-2206G>C | NP_004611.1:n.-22-2206G>C | |
| NM_145803.2:c.-115-1932G>C | NP_665802.1:n.-115-1932G>C | |
| XM_017018220.1:c.-22-2206G>C | XP_016873709.1:n.-22-2206G>C | |
| NM_004620.4:c.-22-2206G>C MANE Select | NP_004611.1:n.-22-2206G>C | |
| NM_145803.3:c.-115-1932G>C | NP_665802.1:n.-115-1932G>C |