Linked Data
dbSNP Id:
rs1892776914
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40931947C>T , CM000677.2:g.40931947C>T | GRCh38 |
| NC_000015.9:g.41224145C>T , CM000677.1:g.41224145C>T | GRCh37 |
| NC_000015.8:g.39011437C>T | NCBI36 |
| NG_046974.1:g.7615C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249749.7:c.658+181C>T MANE Select | ENSP00000249749.5:n.658+181C>T | |
| ENST00000249749.6:c.658+181C>T | ENSP00000249749.5:n.658+181C>T | |
| ENST00000559440.1:n.887+181C>T | ||
| NM_019074.3:c.658+181C>T | NP_061947.1:n.658+181C>T | |
| NM_019074.4:c.658+181C>T MANE Select | NP_061947.1:n.658+181C>T |