Linked Data
dbSNP Id:
rs752508495
ExAC:
1:94467371 G / C
gnomAD v2:
1-94467371-G-C
gnomAD v4:
1-94001815-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001815G>C , CM000663.2:g.94001815G>C | GRCh38 |
| NC_000001.10:g.94467371G>C , CM000663.1:g.94467371G>C | GRCh37 |
| NC_000001.9:g.94239959G>C | NCBI36 |
| NG_009073.1:g.124335C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.6282+43C>G MANE Select | ENSP00000359245.3:n.6282+43C>G | |
| ENST00000370225.3:c.6282+43C>G | ENSP00000359245.3:n.6282+43C>G | |
| ENST00000465352.1:n.741C>G | ||
| ENST00000536513.5:c.2658+43C>G | ENSP00000439707.2:n.2658+43C>G | |
| NM_000350.2:c.6282+43C>G | NP_000341.2:n.6282+43C>G | |
| NM_000350.3:c.6282+43C>G MANE Select | NP_000341.2:n.6282+43C>G |