Linked Data
dbSNP Id:
rs763048187
ExAC:
1:94467372 C / T
gnomAD v2:
1-94467372-C-T
gnomAD v3:
1-94001816-C-T
gnomAD v4:
1-94001816-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001816C>T , CM000663.2:g.94001816C>T | GRCh38 |
| NC_000001.10:g.94467372C>T , CM000663.1:g.94467372C>T | GRCh37 |
| NC_000001.9:g.94239960C>T | NCBI36 |
| NG_009073.1:g.124334G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.6282+42G>A MANE Select | ENSP00000359245.3:n.6282+42G>A | |
| ENST00000370225.3:c.6282+42G>A | ENSP00000359245.3:n.6282+42G>A | |
| ENST00000465352.1:n.740G>A | ||
| ENST00000536513.5:c.2658+42G>A | ENSP00000439707.2:n.2658+42G>A | |
| NM_000350.2:c.6282+42G>A | NP_000341.2:n.6282+42G>A | |
| NM_000350.3:c.6282+42G>A MANE Select | NP_000341.2:n.6282+42G>A |