Linked Data
dbSNP Id:
rs981324844
gnomAD v2:
5-159367308-C-T
gnomAD v3:
5-159940301-C-T
gnomAD v4:
5-159940301-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159940301C>T , CM000667.2:g.159940301C>T | GRCh38 |
| NC_000005.9:g.159367308C>T , CM000667.1:g.159367308C>T | GRCh37 |
| NC_000005.8:g.159299886C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306675.5:c.949+22447C>T MANE Select | ENSP00000306662.3:n.949+22447C>T | |
| ENST00000306675.3:c.949+22447C>T | ENSP00000306662.3:n.949+22447C>T | |
| NM_000679.3:c.949+22447C>T | NP_000670.1:n.949+22447C>T | |
| XM_005265818.2:c.950-7389C>T | XP_005265875.1:n.950-7389C>T | |
| XM_005265819.2:c.950-14812C>T | XP_005265876.1:n.950-14812C>T | |
| XM_006714821.2:c.949+22447C>T | XP_006714884.1:n.949+22447C>T | |
| XM_011534435.1:c.1057+14705C>T | XP_011532737.1:n.1057+14705C>T | |
| XM_011534436.1:c.1057+14705C>T | XP_011532738.1:n.1057+14705C>T | |
| XM_011534437.1:c.1058-7389C>T | XP_011532739.1:n.1058-7389C>T | |
| XM_011534439.1:c.1057+14705C>T | XP_011532741.1:n.1057+14705C>T | |
| XM_005265818.3:c.950-7389C>T | XP_005265875.1:n.950-7389C>T | |
| XM_006714821.3:c.949+22447C>T | XP_006714884.1:n.949+22447C>T | |
| XM_011534437.2:c.1058-7389C>T | XP_011532739.1:n.1058-7389C>T | |
| XR_001742950.1:n.1317G>A | ||
| NM_000679.4:c.949+22447C>T MANE Select | NP_000670.1:n.949+22447C>T |