Linked Data
dbSNP Id:
rs1367248
gnomAD v2:
2-124998364-G-T
gnomAD v3:
2-124240787-G-T
gnomAD v4:
2-124240787-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.124240787G>T , CM000664.2:g.124240787G>T | GRCh38 |
| NC_000002.11:g.124998364G>T , CM000664.1:g.124998364G>T | GRCh37 |
| NC_000002.10:g.124714834G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682447.1:c.188-1413G>T MANE Select | ENSP00000508115.1:n.188-1413G>T | |
| ENST00000431078.1:c.188-1413G>T | ENSP00000399013.1:n.188-1413G>T | |
| ENST00000470921.1:n.106-1413G>T | ||
| NM_130773.3:c.188-1413G>T | NP_570129.1:n.188-1413G>T | |
| XM_006712258.1:c.188-1413G>T | XP_006712321.1:n.188-1413G>T | |
| XM_017003316.1:c.188-1413G>T | XP_016858805.1:n.188-1413G>T | |
| NM_001367498.1:c.188-1413G>T MANE Select | NP_001354427.1:n.188-1413G>T | |
| NM_130773.4:c.188-1413G>T | NP_570129.1:n.188-1413G>T |