Linked Data
dbSNP Id:
rs770660462
ExAC:
16:2335602 C / T
gnomAD v2:
16-2335602-C-T
gnomAD v4:
16-2285601-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2285601C>T , CM000678.2:g.2285601C>T | GRCh38 |
| NC_000016.9:g.2335602C>T , CM000678.1:g.2335602C>T | GRCh37 |
| NC_000016.8:g.2275603C>T | NCBI36 |
| NG_011790.1:g.60146G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.3324G>A MANE Select | ENSP00000301732.5:p.Met1108Ile | |
| ENST00000301732.9:c.3324G>A | ENSP00000301732.5:p.Met1108Ile | |
| ENST00000382381.7:c.3150G>A | ENSP00000371818.3:p.Met1050Ile | |
| NM_001089.2:c.3324G>A | NP_001080.2:p.Met1108Ile | |
| NM_001089.3:c.3324G>A MANE Select | NP_001080.2:p.Met1108Ile |