Linked Data
dbSNP Id:
rs772705753
ExAC:
13:110822068 C / G
gnomAD v2:
13-110822068-C-G
gnomAD v4:
13-110169721-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110169721C>G , CM000675.2:g.110169721C>G | GRCh38 |
| NC_000013.10:g.110822068C>G , CM000675.1:g.110822068C>G | GRCh37 |
| NC_000013.9:g.109620069C>G | NCBI36 |
| NG_011544.2:g.142429G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3784G>C MANE Select | ENSP00000364979.4:p.Asp1262His | |
| ENST00000375820.8:c.3784G>C | ENSP00000364979.4:p.Asp1262His | |
| NM_001845.5:c.3784G>C | NP_001836.3:p.Asp1262His | |
| XM_011521048.1:c.3592G>C | XP_011519350.1:p.Asp1198His | |
| XM_011521048.2:c.3592G>C | XP_011519350.1:p.Asp1198His | |
| NM_001845.6:c.3784G>C MANE Select | NP_001836.3:p.Asp1262His |