Linked Data
dbSNP Id:
rs12262754
gnomAD v2:
10-87929082-G-A
gnomAD v3:
10-86169325-G-A
gnomAD v4:
10-86169325-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86169325G>A , CM000672.2:g.86169325G>A | GRCh38 |
| NC_000010.10:g.87929082G>A , CM000672.1:g.87929082G>A | GRCh37 |
| NC_000010.9:g.87919062G>A | NCBI36 |
| NG_011875.1:g.202169C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327946.12:c.521-30301C>T MANE Select | ENSP00000330148.7:n.521-30301C>T | |
| ENST00000327946.11:c.521-30301C>T | ENSP00000330148.7:n.521-30301C>T | |
| ENST00000464741.2:c.521-30301C>T | ENSP00000433064.1:n.521-30301C>T | |
| NM_017551.2:c.521-30301C>T | NP_060021.1:n.521-30301C>T | |
| XM_011539720.1:c.521-30301C>T | XP_011538022.1:n.521-30301C>T | |
| XM_011539720.2:c.521-30301C>T | XP_011538022.1:n.521-30301C>T | |
| NM_017551.3:c.521-30301C>T MANE Select | NP_060021.1:n.521-30301C>T |