Linked Data
dbSNP Id:
rs780850241
ExAC:
16:2335511 C / A
gnomAD v2:
16-2335511-C-A
gnomAD v4:
16-2285510-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2285510C>A , CM000678.2:g.2285510C>A | GRCh38 |
| NC_000016.9:g.2335511C>A , CM000678.1:g.2335511C>A | GRCh37 |
| NC_000016.8:g.2275512C>A | NCBI36 |
| NG_011790.1:g.60237G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.3415G>T MANE Select | ENSP00000301732.5:p.Ala1139Ser | |
| ENST00000301732.9:c.3415G>T | ENSP00000301732.5:p.Ala1139Ser | |
| ENST00000382381.7:c.3241G>T | ENSP00000371818.3:p.Ala1081Ser | |
| NM_001089.2:c.3415G>T | NP_001080.2:p.Ala1139Ser | |
| NM_001089.3:c.3415G>T MANE Select | NP_001080.2:p.Ala1139Ser |