Linked Data
dbSNP Id:
rs1259489828
gnomAD v2:
2-219746616-C-T
gnomAD v3:
2-218881894-C-T
gnomAD v4:
2-218881894-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218881894C>T , CM000664.2:g.218881894C>T | GRCh38 |
| NC_000002.11:g.219746616C>T , CM000664.1:g.219746616C>T | GRCh37 |
| NC_000002.10:g.219454860C>T | NCBI36 |
| NG_012179.1:g.6362C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258411.8:c.114-267C>T MANE Select | ENSP00000258411.3:n.114-267C>T | |
| ENST00000258411.7:c.114-267C>T | ENSP00000258411.3:n.114-267C>T | |
| NM_025216.2:c.114-267C>T | NP_079492.2:n.114-267C>T | |
| XM_011511928.1:c.63-267C>T | XP_011510230.1:n.63-267C>T | |
| XM_011511929.1:c.18-267C>T | XP_011510231.1:n.18-267C>T | |
| XM_011511930.1:c.114-267C>T | XP_011510232.1:n.114-267C>T | |
| XM_011511929.2:c.18-267C>T | XP_011510231.1:n.18-267C>T | |
| NM_025216.3:c.114-267C>T MANE Select | NP_079492.2:n.114-267C>T |