Linked Data
dbSNP Id:
rs1042597
gnomAD v2:
2-234526871-C-T
gnomAD v3:
2-233618225-C-T
gnomAD v4:
2-233618225-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233618225C>T , CM000664.2:g.233618225C>T | GRCh38 |
| NC_000002.11:g.234526871C>T , CM000664.1:g.234526871C>T | GRCh37 |
| NC_000002.10:g.234191610C>T | NCBI36 |
| NG_002601.2:g.33482C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373450.5:c.518C>T MANE Select | ENSP00000362549.4:p.Ala173Val | |
| ENST00000373450.4:c.518C>T | ENSP00000362549.4:p.Ala173Val | |
| NM_019076.4:c.518C>T | NP_061949.3:p.Ala173Val | |
| NM_019076.5:c.518C>T MANE Select | NP_061949.3:p.Ala173Val |