Linked Data
dbSNP Id:
rs779382763
gnomAD v2:
2-204801688-G-A
gnomAD v3:
2-203936965-G-A
gnomAD v4:
2-203936965-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203936965G>A , CM000664.2:g.203936965G>A | GRCh38 |
| NC_000002.11:g.204801688G>A , CM000664.1:g.204801688G>A | GRCh37 |
| NC_000002.10:g.204509933G>A | NCBI36 |
| NG_011586.1:g.5186G>A , LRG_65:g.5186G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316386.11:c.58+93G>A MANE Select | ENSP00000319476.6:n.58+93G>A | |
| ENST00000316386.10:c.58+93G>A | ENSP00000319476.6:n.58+93G>A | |
| ENST00000435193.1:c.58+93G>A | ENSP00000415951.1:n.58+93G>A | |
| NM_012092.3:c.58+93G>A , LRG_65t1:c.58+93G>A | NP_036224.1:n.58+93G>A | |
| XM_011511028.1:c.58+93G>A | XP_011509330.1:n.58+93G>A | |
| XM_011511030.1:c.-360+93G>A | XP_011509332.1:n.-360+93G>A | |
| XM_011511031.1:c.-264+93G>A | XP_011509333.1:n.-264+93G>A | |
| XR_427213.2:n.366+352C>T | ||
| XR_001739861.1:n.380+352C>T | ||
| XR_427213.3:n.380+352C>T | ||
| NM_012092.4:c.58+93G>A MANE Select | NP_036224.1:n.58+93G>A |