Linked Data
dbSNP Id:
rs4074995
gnomAD v2:
5-176797343-G-A
gnomAD v3:
5-177370342-G-A
gnomAD v4:
5-177370342-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177370342G>A , CM000667.2:g.177370342G>A | GRCh38 |
| NC_000005.9:g.176797343G>A , CM000667.1:g.176797343G>A | GRCh37 |
| NC_000005.8:g.176729949G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000408923.8:c.1054-249G>A MANE Select | ENSP00000386229.3:n.1054-249G>A | |
| ENST00000408923.7:c.1054-249G>A | ENSP00000386229.3:n.1054-249G>A | |
| ENST00000425155.6:n.1158-246G>A | ||
| ENST00000511890.1:c.663-246G>A | ||
| NM_006480.4:c.1054-249G>A | NP_006471.2:n.1054-249G>A | |
| XM_005265794.3:c.1054-246G>A | XP_005265851.1:n.1054-246G>A | |
| XM_005265795.3:c.1054-246G>A | XP_005265852.1:n.1054-246G>A | |
| NM_001366617.1:c.1054-246G>A | NP_001353546.1:n.1054-246G>A | |
| NM_001366618.1:c.1054-246G>A | NP_001353547.1:n.1054-246G>A | |
| XM_024454328.1:c.1054-246G>A | XP_024310096.1:n.1054-246G>A | |
| NM_006480.5:c.1054-249G>A MANE Select | NP_006471.2:n.1054-249G>A |