Linked Data
dbSNP Id:
rs377233367
gnomAD v2:
2-204801681-A-G
gnomAD v3:
2-203936958-A-G
gnomAD v4:
2-203936958-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203936958A>G , CM000664.2:g.203936958A>G | GRCh38 |
| NC_000002.11:g.204801681A>G , CM000664.1:g.204801681A>G | GRCh37 |
| NC_000002.10:g.204509926A>G | NCBI36 |
| NG_011586.1:g.5179A>G , LRG_65:g.5179A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316386.11:c.58+86A>G MANE Select | ENSP00000319476.6:n.58+86A>G | |
| ENST00000316386.10:c.58+86A>G | ENSP00000319476.6:n.58+86A>G | |
| ENST00000435193.1:c.58+86A>G | ENSP00000415951.1:n.58+86A>G | |
| NM_012092.3:c.58+86A>G , LRG_65t1:c.58+86A>G | NP_036224.1:n.58+86A>G | |
| XM_011511028.1:c.58+86A>G | XP_011509330.1:n.58+86A>G | |
| XM_011511030.1:c.-360+86A>G | XP_011509332.1:n.-360+86A>G | |
| XM_011511031.1:c.-264+86A>G | XP_011509333.1:n.-264+86A>G | |
| XR_427213.2:n.366+359T>C | ||
| XR_001739861.1:n.380+359T>C | ||
| XR_427213.3:n.380+359T>C | ||
| NM_012092.4:c.58+86A>G MANE Select | NP_036224.1:n.58+86A>G |