Linked Data
dbSNP Id:
rs12136600
gnomAD v2:
1-55521195-C-T
gnomAD v3:
1-55055522-C-T
gnomAD v4:
1-55055522-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55055522C>T , CM000663.2:g.55055522C>T | GRCh38 |
| NC_000001.10:g.55521195C>T , CM000663.1:g.55521195C>T | GRCh37 |
| NC_000001.9:g.55293783C>T | NCBI36 |
| NG_009061.1:g.20976C>T , LRG_275:g.20976C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.800-471C>T | ENSP00000501161.2:n.800-471C>T | |
| ENST00000710286.1:c.1157-471C>T | ENSP00000518176.1:n.1157-471C>T | |
| ENST00000673903.1:c.425-471C>T | ENSP00000501257.1:n.425-471C>T | |
| ENST00000302118.5:c.800-471C>T MANE Select | ENSP00000303208.5:n.800-471C>T | |
| ENST00000490692.1:n.1621-471C>T | ||
| NM_174936.3:c.800-471C>T , LRG_275t1:c.800-471C>T | NP_777596.2:n.800-471C>T | |
| NR_110451.1:n.459-471C>T | ||
| NM_174936.4:c.800-471C>T MANE Select | NP_777596.2:n.800-471C>T | |
| NR_110451.2:n.459-471C>T |