Linked Data
dbSNP Id:
rs2131286193
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133644165A>C , CM000671.2:g.133644165A>C | GRCh38 |
| NC_000009.11:g.136509287A>C , CM000671.1:g.136509287A>C | GRCh37 |
| NC_000009.10:g.135499108A>C | NCBI36 |
| NG_008645.1:g.12803A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393056.8:c.922-53A>C MANE Select | ENSP00000376776.2:n.922-53A>C | |
| ENST00000393056.6:c.922-53A>C | ENSP00000376776.2:n.922-53A>C | |
| NM_000787.3:c.922-53A>C | NP_000778.3:n.922-53A>C | |
| NM_000787.4:c.922-53A>C MANE Select | NP_000778.3:n.922-53A>C |