Linked Data
dbSNP Id:
rs748432830
ExAC:
10:96748747 G / T
gnomAD v2:
10-96748747-G-T
gnomAD v4:
10-94988990-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94988990G>T , CM000672.2:g.94988990G>T | GRCh38 |
| NC_000010.10:g.96748747G>T , CM000672.1:g.96748747G>T | GRCh37 |
| NC_000010.9:g.96738737G>T | NCBI36 |
| NG_008385.1:g.55333G>T | |
| NG_008385.2:g.55833G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.1435G>T MANE Select | ENSP00000260682.6:p.Val479Leu | |
| ENST00000643112.1:c.*444G>T | ENSP00000496202.1:n.*444G>T | |
| ENST00000260682.6:c.1435G>T | ENSP00000260682.6:p.Val479Leu | |
| NM_000771.3:c.1435G>T | NP_000762.2:p.Val479Leu | |
| NM_000771.4:c.1435G>T MANE Select | NP_000762.2:p.Val479Leu |