Linked Data
dbSNP Id:
rs10497813
gnomAD v2:
2-198914072-G-T
gnomAD v3:
2-198049348-G-T
gnomAD v4:
2-198049348-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.198049348G>T , CM000664.2:g.198049348G>T | GRCh38 |
| NC_000002.11:g.198914072G>T , CM000664.1:g.198914072G>T | GRCh37 |
| NC_000002.10:g.198622317G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000428675.6:c.241-34410G>T MANE Select | ENSP00000402861.1:n.241-34410G>T | |
| ENST00000428675.5:c.241-34410G>T | ENSP00000402861.1:n.241-34410G>T | |
| ENST00000435320.1:c.*13-34410G>T | ENSP00000410488.1:n.*13-34410G>T | |
| ENST00000487695.6:c.19-34410G>T | ENSP00000457588.1:n.19-34410G>T | |
| NM_006226.3:c.241-34410G>T | NP_006217.3:n.241-34410G>T | |
| XM_005246643.2:c.19-34410G>T | XP_005246700.1:n.19-34410G>T | |
| XM_011511351.1:c.4-34410G>T | XP_011509653.1:n.4-34410G>T | |
| XM_005246643.4:c.19-34410G>T | XP_005246700.1:n.19-34410G>T | |
| XM_011511351.2:c.4-34410G>T | XP_011509653.1:n.4-34410G>T | |
| XM_017004339.2:c.4-34410G>T | XP_016859828.1:n.4-34410G>T | |
| XM_017004340.2:c.-54-34410G>T | XP_016859829.1:n.-54-34410G>T | |
| NM_006226.4:c.241-34410G>T MANE Select | NP_006217.3:n.241-34410G>T |