Linked Data
dbSNP Id:
rs1480248018
gnomAD v2:
1-26135868-C-T
gnomAD v3:
1-25809377-C-T
gnomAD v4:
1-25809377-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25809377C>T , CM000663.2:g.25809377C>T | GRCh38 |
| NC_000001.10:g.26135868C>T , CM000663.1:g.26135868C>T | GRCh37 |
| NC_000001.9:g.26008455C>T | NCBI36 |
| NG_009930.1:g.14202C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354177.9:c.701+227C>T | ENSP00000346109.5:n.701+227C>T | |
| ENST00000494537.2:c.770+227C>T | ENSP00000508308.1:n.770+227C>T | |
| ENST00000361547.7:c.872+227C>T MANE Select | ENSP00000355141.2:n.872+227C>T | |
| ENST00000354177.8:c.770+227C>T | ENSP00000346109.4:n.770+227C>T | |
| ENST00000361547.6:c.872+227C>T | ENSP00000355141.2:n.872+227C>T | |
| ENST00000374315.1:c.770+227C>T | ENSP00000363434.1:n.770+227C>T | |
| NM_020451.2:c.872+227C>T | NP_065184.2:n.872+227C>T | |
| NM_206926.1:c.770+227C>T | NP_996809.1:n.770+227C>T | |
| NM_020451.3:c.872+227C>T MANE Select | NP_065184.2:n.872+227C>T | |
| NM_206926.2:c.770+227C>T | NP_996809.1:n.770+227C>T |