Linked Data
dbSNP Id:
rs12618769
gnomAD v2:
2-99239931-C-T
gnomAD v3:
2-98623468-C-T
gnomAD v4:
2-98623468-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.98623468C>T , CM000664.2:g.98623468C>T | GRCh38 |
| NC_000002.11:g.99239931C>T , CM000664.1:g.99239931C>T | GRCh37 |
| NC_000002.10:g.98606363C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393487.6:c.*2098G>A MANE Select | ENSP00000377127.1:n.*2098G>A | |
| ENST00000264968.7:c.*2098G>A | ENSP00000264968.2:n.*2098G>A | |
| ENST00000393487.5:c.*2098G>A | ENSP00000377127.1:n.*2098G>A | |
| ENST00000414521.6:c.1198-1963G>A | ENSP00000404889.2:n.1198-1963G>A | |
| NM_001160154.1:c.1198-1963G>A | NP_001153626.1:n.1198-1963G>A | |
| NM_012214.2:c.*2098G>A | NP_036346.1:n.*2098G>A | |
| NM_012214.3:c.*2098G>A MANE Select | NP_036346.1:n.*2098G>A | |
| NM_001160154.2:c.1198-1963G>A | NP_001153626.1:n.1198-1963G>A |