Linked Data
dbSNP Id:
rs13077101
gnomAD v2:
3-120425331-T-C
gnomAD v3:
3-120706484-T-C
gnomAD v4:
3-120706484-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120706484T>C , CM000665.2:g.120706484T>C | GRCh38 |
| NC_000003.11:g.120425331T>C , CM000665.1:g.120425331T>C | GRCh37 |
| NC_000003.10:g.121908021T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000273375.8:c.269-370A>G MANE Select | ENSP00000273375.4:n.269-370A>G | |
| ENST00000648525.1:n.396-370A>G | ||
| ENST00000273375.7:c.269-370A>G | ENSP00000273375.3:n.269-370A>G | |
| ENST00000465022.5:c.269-370A>G | ENSP00000420573.1:n.269-370A>G | |
| ENST00000468192.1:n.335-370A>G | ||
| ENST00000473654.5:c.269-370A>G | ENSP00000419310.1:n.269-370A>G | |
| ENST00000481015.5:c.137-370A>G | ||
| ENST00000483733.1:c.269-370A>G | ENSP00000419986.1:n.269-370A>G | |
| ENST00000485161.5:c.139-370A>G | ENSP00000417266.1:n.139-370A>G | |
| ENST00000491398.5:n.436-370A>G | ||
| NM_173825.3:c.269-370A>G | NP_776186.2:n.269-370A>G | |
| XM_006713595.1:c.269-370A>G | XP_006713658.1:n.269-370A>G | |
| NM_001363964.1:c.269-370A>G | NP_001350893.1:n.269-370A>G | |
| NM_001363965.1:c.269-370A>G | NP_001350894.1:n.269-370A>G | |
| NM_173825.4:c.269-370A>G | NP_776186.2:n.269-370A>G | |
| NR_157022.1:n.583-370A>G | ||
| XM_017006228.2:c.269-370A>G | XP_016861717.1:n.269-370A>G | |
| NM_173825.5:c.269-370A>G MANE Select | NP_776186.2:n.269-370A>G |