Linked Data
dbSNP Id:
rs772943209
gnomAD v2:
1-206944036-T-C
gnomAD v3:
1-206770691-T-C
gnomAD v4:
1-206770691-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206770691T>C , CM000663.2:g.206770691T>C | GRCh38 |
| NC_000001.10:g.206944036T>C , CM000663.1:g.206944036T>C | GRCh37 |
| NC_000001.9:g.205010659T>C | NCBI36 |
| NG_012088.1:g.6804A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367099.4:n.283+216A>G | ||
| ENST00000471071.2:c.123+216A>G | ENSP00000493073.2:n.123+216A>G | |
| ENST00000659065.2:c.261+216A>G | ENSP00000499588.1:n.261+216A>G | |
| ENST00000659642.2:c.261+216A>G | ENSP00000499509.1:n.261+216A>G | |
| ENST00000664374.2:c.261+216A>G | ENSP00000499664.1:n.261+216A>G | |
| ENST00000659065.1:c.261+216A>G | ENSP00000499588.1:n.261+216A>G | |
| ENST00000659642.1:c.261+216A>G | ENSP00000499509.1:n.261+216A>G | |
| ENST00000664374.1:c.261+216A>G | ENSP00000499664.1:n.261+216A>G | |
| ENST00000367099.3:n.283+216A>G | ||
| ENST00000423557.1:c.378+216A>G MANE Select | ENSP00000412237.1:n.378+216A>G | |
| ENST00000471071.1:n.293+216A>G | ||
| NM_000572.2:c.378+216A>G | NP_000563.1:n.378+216A>G | |
| XM_011509506.1:c.378+216A>G | XP_011507808.1:n.378+216A>G | |
| NM_000572.3:c.378+216A>G MANE Select | NP_000563.1:n.378+216A>G | |
| NM_001382624.1:c.123+216A>G | NP_001369553.1:n.123+216A>G | |
| NR_168466.1:n.437+216A>G |