Linked Data
dbSNP Id:
rs10749535
gnomAD v2:
10-88104526-C-T
gnomAD v3:
10-86344769-C-T
gnomAD v4:
10-86344769-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86344769C>T , CM000672.2:g.86344769C>T | GRCh38 |
| NC_000010.10:g.88104526C>T , CM000672.1:g.88104526C>T | GRCh37 |
| NC_000010.9:g.88094506C>T | NCBI36 |
| NG_011875.1:g.26725G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327946.12:c.235+19172G>A MANE Select | ENSP00000330148.7:n.235+19172G>A | |
| ENST00000327946.11:c.235+19172G>A | ENSP00000330148.7:n.235+19172G>A | |
| ENST00000464741.2:c.235+19172G>A | ENSP00000433064.1:n.235+19172G>A | |
| NM_017551.2:c.235+19172G>A | NP_060021.1:n.235+19172G>A | |
| XM_011539720.1:c.235+19172G>A | XP_011538022.1:n.235+19172G>A | |
| XM_011539720.2:c.235+19172G>A | XP_011538022.1:n.235+19172G>A | |
| NM_017551.3:c.235+19172G>A MANE Select | NP_060021.1:n.235+19172G>A |