Linked Data
dbSNP Id:
rs1409960043
gnomAD v2:
3-38767394-G-C
gnomAD v3:
3-38725903-G-C
gnomAD v4:
3-38725903-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38725903G>C , CM000665.2:g.38725903G>C | GRCh38 |
| NC_000003.11:g.38767394G>C , CM000665.1:g.38767394G>C | GRCh37 |
| NC_000003.10:g.38742398G>C | NCBI36 |
| NG_031891.2:g.73108C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.3088-589C>G MANE Select | ENSP00000390600.2:n.3088-589C>G | |
| ENST00000643924.1:c.3088-592C>G | ENSP00000495595.1:n.3088-592C>G | |
| ENST00000655275.1:c.3115-592C>G | ENSP00000499510.1:n.3115-592C>G | |
| ENST00000449082.2:c.3088-589C>G | ENSP00000390600.2:n.3088-589C>G | |
| NM_001293306.2:c.3088-592C>G | NP_001280235.2:n.3088-592C>G | |
| NM_001293307.2:c.2794-589C>G | NP_001280236.2:n.2794-589C>G | |
| NM_006514.3:c.3088-589C>G | NP_006505.3:n.3088-589C>G | |
| XM_005265371.2:c.3097-589C>G | XP_005265428.1:n.3097-589C>G | |
| XM_011533993.1:c.3097-592C>G | XP_011532295.1:n.3097-592C>G | |
| XM_011533994.1:c.2803-589C>G | XP_011532296.1:n.2803-589C>G | |
| XM_005265371.3:c.3097-589C>G | XP_005265428.1:n.3097-589C>G | |
| XM_011533993.2:c.3097-592C>G | XP_011532295.1:n.3097-592C>G | |
| XM_011533994.2:c.2803-589C>G | XP_011532296.1:n.2803-589C>G | |
| NM_006514.4:c.3088-589C>G MANE Select | NP_006505.4:n.3088-589C>G |