Linked Data
dbSNP Id:
rs17031671
gnomAD v2:
4-155389247-T-C
gnomAD v3:
4-154468095-T-C
gnomAD v4:
4-154468095-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154468095T>C , CM000666.2:g.154468095T>C | GRCh38 |
| NC_000004.11:g.155389247T>C , CM000666.1:g.155389247T>C | GRCh37 |
| NC_000004.10:g.155608697T>C | NCBI36 |
| NG_054879.1:g.28684A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357232.10:c.2052+21209A>G MANE Select | ENSP00000349768.5:n.2052+21209A>G | |
| ENST00000339452.2:c.2052+21209A>G | ENSP00000345062.1:n.2052+21209A>G | |
| NM_001142552.1:c.2052+21209A>G | NP_001136024.1:n.2052+21209A>G | |
| XM_011532045.1:c.2052+21209A>G | XP_011530347.1:n.2052+21209A>G | |
| NM_001358235.1:c.2052+21209A>G | NP_001345164.1:n.2052+21209A>G | |
| NM_001142552.2:c.2052+21209A>G | NP_001136024.1:n.2052+21209A>G | |
| NM_001358235.2:c.2052+21209A>G MANE Select | NP_001345164.1:n.2052+21209A>G |