Linked Data
dbSNP Id:
rs763618838
ExAC:
3:33063175 A / C
gnomAD v2:
3-33063175-A-C
gnomAD v4:
3-33021683-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33021683A>C , CM000665.2:g.33021683A>C | GRCh38 |
| NC_000003.11:g.33063175A>C , CM000665.1:g.33063175A>C | GRCh37 |
| NC_000003.10:g.33038179A>C | NCBI36 |
| NG_009005.1:g.80520T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1144-28T>G MANE Select | ENSP00000306920.4:n.1144-28T>G | |
| ENST00000307363.9:c.1144-28T>G | ENSP00000306920.4:n.1144-28T>G | |
| ENST00000307377.12:c.751-28T>G | ENSP00000305920.8:n.751-28T>G | |
| ENST00000399402.7:c.1054-28T>G | ENSP00000382333.2:n.1054-28T>G | |
| ENST00000461475.5:n.243-28T>G | ||
| ENST00000467571.5:n.181-28T>G | ||
| ENST00000473477.1:n.176-28T>G | ||
| ENST00000482097.5:n.519-28T>G | ||
| ENST00000497796.5:n.396-28T>G | ||
| NM_000404.2:c.1144-28T>G | NP_000395.2:n.1144-28T>G | |
| NM_000404.3:c.1144-28T>G | NP_000395.2:n.1144-28T>G | |
| NM_001079811.1:c.1054-28T>G | NP_001073279.1:n.1054-28T>G | |
| NM_001079811.2:c.1054-28T>G | NP_001073279.1:n.1054-28T>G | |
| NM_001135602.1:c.751-28T>G | NP_001129074.1:n.751-28T>G | |
| NM_001135602.2:c.751-28T>G | NP_001129074.1:n.751-28T>G | |
| NM_001317040.1:c.1288-28T>G | NP_001303969.1:n.1288-28T>G | |
| XR_001740634.1:n.1543-505A>C | ||
| NM_000404.4:c.1144-28T>G MANE Select | NP_000395.3:n.1144-28T>G | |
| NM_001079811.3:c.1054-28T>G | NP_001073279.2:n.1054-28T>G | |
| NM_001135602.3:c.751-28T>G | NP_001129074.2:n.751-28T>G | |
| NM_001317040.2:c.1288-28T>G | NP_001303969.2:n.1288-28T>G | |
| NM_001393580.1:c.1144-28T>G | NP_001380509.1:n.1144-28T>G |