Linked Data
dbSNP Id:
rs1970459699
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887136G>A , CM000681.2:g.12887136G>A | GRCh38 |
| NC_000019.9:g.12997950G>A , CM000681.1:g.12997950G>A | GRCh37 |
| NC_000019.8:g.12858950G>A | NCBI36 |
| NG_009292.1:g.977G>A | |
| NG_013087.1:g.5068C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.5C>T MANE Select | ENSP00000264834.3:p.Ala2Val | |
| ENST00000264834.4:c.5C>T | ENSP00000264834.3:p.Ala2Val | |
| NM_006563.3:c.5C>T | NP_006554.1:p.Ala2Val | |
| NM_006563.4:c.5C>T | NP_006554.1:p.Ala2Val | |
| NM_006563.5:c.5C>T MANE Select | NP_006554.1:p.Ala2Val |