Linked Data
dbSNP Id:
rs1346370268
gnomAD v2:
3-38766475-G-A
gnomAD v3:
3-38724984-G-A
gnomAD v4:
3-38724984-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38724984G>A , CM000665.2:g.38724984G>A | GRCh38 |
| NC_000003.11:g.38766475G>A , CM000665.1:g.38766475G>A | GRCh37 |
| NC_000003.10:g.38741479G>A | NCBI36 |
| NG_031891.2:g.74027C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.3228+190C>T MANE Select | ENSP00000390600.2:n.3228+190C>T | |
| ENST00000643924.1:c.3225+190C>T | ENSP00000495595.1:n.3225+190C>T | |
| ENST00000655275.1:c.3252+190C>T | ENSP00000499510.1:n.3252+190C>T | |
| ENST00000449082.2:c.3228+190C>T | ENSP00000390600.2:n.3228+190C>T | |
| NM_001293306.2:c.3225+190C>T | NP_001280235.2:n.3225+190C>T | |
| NM_001293307.2:c.2934+190C>T | NP_001280236.2:n.2934+190C>T | |
| NM_006514.3:c.3228+190C>T | NP_006505.3:n.3228+190C>T | |
| XM_005265371.2:c.3237+190C>T | XP_005265428.1:n.3237+190C>T | |
| XM_011533993.1:c.3234+190C>T | XP_011532295.1:n.3234+190C>T | |
| XM_011533994.1:c.2943+190C>T | XP_011532296.1:n.2943+190C>T | |
| XM_005265371.3:c.3237+190C>T | XP_005265428.1:n.3237+190C>T | |
| XM_011533993.2:c.3234+190C>T | XP_011532295.1:n.3234+190C>T | |
| XM_011533994.2:c.2943+190C>T | XP_011532296.1:n.2943+190C>T | |
| NM_006514.4:c.3228+190C>T MANE Select | NP_006505.4:n.3228+190C>T |