Linked Data
dbSNP Id:
rs147106204
gnomAD v2:
5-167741566-C-A
gnomAD v3:
5-168314561-C-A
gnomAD v4:
5-168314561-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.168314561C>A , CM000667.2:g.168314561C>A | GRCh38 |
| NC_000005.9:g.167741566C>A , CM000667.1:g.167741566C>A | GRCh37 |
| NC_000005.8:g.167674144C>A | NCBI36 |
| NG_016712.1:g.27502C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265293.9:c.119+22290C>A MANE Select | ENSP00000265293.4:n.119+22290C>A | |
| ENST00000265293.8:c.119+22290C>A | ENSP00000265293.4:n.119+22290C>A | |
| ENST00000521089.5:c.119+22290C>A | ENSP00000427772.1:n.119+22290C>A | |
| ENST00000523043.5:n.26+22290C>A | ||
| NM_001161661.1:c.119+22290C>A | NP_001155133.1:n.119+22290C>A | |
| NM_001161662.1:c.119+22290C>A | NP_001155134.1:n.119+22290C>A | |
| NM_015238.2:c.119+22290C>A | NP_056053.1:n.119+22290C>A | |
| XM_005265850.1:c.119+22290C>A | XP_005265907.1:n.119+22290C>A | |
| XM_005265853.1:c.119+22290C>A | XP_005265910.1:n.119+22290C>A | |
| XM_011534485.1:c.119+22290C>A | XP_011532787.1:n.119+22290C>A | |
| XM_011534486.1:c.119+22290C>A | XP_011532788.1:n.119+22290C>A | |
| XM_011534487.1:c.119+22290C>A | XP_011532789.1:n.119+22290C>A | |
| XM_011534488.1:c.119+22290C>A | XP_011532790.1:n.119+22290C>A | |
| XM_011534489.1:c.119+22290C>A | XP_011532791.1:n.119+22290C>A | |
| XM_011534490.1:c.119+22290C>A | XP_011532792.1:n.119+22290C>A | |
| XM_011534491.1:c.119+22290C>A | XP_011532793.1:n.119+22290C>A | |
| XM_005265853.2:c.119+22290C>A | XP_005265910.1:n.119+22290C>A | |
| XM_017009276.1:c.119+22290C>A | XP_016864765.1:n.119+22290C>A | |
| XM_017009278.1:c.-236+18277C>A | XP_016864767.1:n.-236+18277C>A | |
| NM_001161661.2:c.119+22290C>A | NP_001155133.1:n.119+22290C>A | |
| NM_001161662.2:c.119+22290C>A | NP_001155134.1:n.119+22290C>A | |
| NM_015238.3:c.119+22290C>A MANE Select | NP_056053.1:n.119+22290C>A |