Linked Data
dbSNP Id:
rs4800773
gnomAD v2:
18-24444981-G-A
gnomAD v3:
18-26865017-G-A
gnomAD v4:
18-26865017-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.26865017G>A , CM000680.2:g.26865017G>A | GRCh38 |
| NC_000018.9:g.24444981G>A , CM000680.1:g.24444981G>A | GRCh37 |
| NC_000018.8:g.22698979G>A | NCBI36 |
| NG_029560.1:g.5736C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000383168.9:c.32+641C>T MANE Select | ENSP00000372654.4:n.32+641C>T | |
| ENST00000672188.1:c.32+641C>T | ENSP00000500720.1:n.32+641C>T | |
| ENST00000672981.2:c.32+641C>T | ENSP00000500598.2:n.32+641C>T | |
| ENST00000675739.1:c.32+641C>T | ENSP00000502364.1:n.32+641C>T | |
| ENST00000383168.8:c.32+641C>T | ENSP00000372654.4:n.32+641C>T | |
| ENST00000383170.3:c.32+641C>T | ENSP00000372656.3:n.32+641C>T | |
| ENST00000578776.1:c.32+641C>T | ENSP00000462075.1:n.32+641C>T | |
| ENST00000622234.4:c.32+641C>T | ENSP00000484446.1:n.32+641C>T | |
| NM_001650.4:c.32+641C>T | NP_001641.1:n.32+641C>T | |
| NM_001317384.2:c.32+641C>T | NP_001304313.1:n.32+641C>T | |
| NM_001317387.2:c.32+641C>T | NP_001304316.1:n.32+641C>T | |
| NM_001364286.1:c.-35+641C>T | NP_001351215.1:n.-35+641C>T | |
| NM_001364287.1:c.-35+641C>T | NP_001351216.1:n.-35+641C>T | |
| NM_001650.6:c.32+641C>T | NP_001641.1:n.32+641C>T | |
| NM_001650.7:c.32+641C>T MANE Select | NP_001641.1:n.32+641C>T | |
| NM_001317384.3:c.32+641C>T | NP_001304313.1:n.32+641C>T | |
| NM_001317387.3:c.32+641C>T | NP_001304316.1:n.32+641C>T |