Linked Data
dbSNP Id:
rs237450
gnomAD v2:
20-47982128-G-A
gnomAD v3:
20-49365591-G-A
gnomAD v4:
20-49365591-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49365591G>A , CM000682.2:g.49365591G>A | GRCh38 |
| NC_000020.10:g.47982128G>A , CM000682.1:g.47982128G>A | GRCh37 |
| NC_000020.9:g.47415535G>A | NCBI36 |
| NG_041781.2:g.122054C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371741.6:c.*7392C>T MANE Select | ENSP00000360806.3:n.*7392C>T | |
| ENST00000635878.1:c.97-66208C>T | ENSP00000489908.1:n.97-66208C>T | |
| ENST00000636838.1:n.610+6750C>T | ||
| ENST00000637091.1:n.223-4911G>A | ||
| ENST00000637131.1:c.763+6750C>T | ||
| ENST00000637341.1:n.206+33567G>A | ||
| ENST00000637575.1:n.430-4911G>A | ||
| ENST00000371741.5:c.*7392C>T | ENSP00000360806.3:n.*7392C>T | |
| XM_006723784.2:c.*7392C>T | XP_006723847.1:n.*7392C>T | |
| XM_011528799.1:c.*7392C>T | XP_011527101.1:n.*7392C>T | |
| NM_004975.3:c.*7392C>T | NP_004966.1:n.*7392C>T | |
| XM_006723784.3:c.*7392C>T | XP_006723847.1:n.*7392C>T | |
| XM_011528799.2:c.*7392C>T | XP_011527101.1:n.*7392C>T | |
| XR_001754659.1:n.156+33567G>A | ||
| NM_004975.4:c.*7392C>T MANE Select | NP_004966.1:n.*7392C>T |