Linked Data
dbSNP Id:
rs777522365
ExAC:
12:52845476 C / T
gnomAD v2:
12-52845476-C-T
gnomAD v4:
12-52451692-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451692C>T , CM000674.2:g.52451692C>T | GRCh38 |
| NC_000012.11:g.52845476C>T , CM000674.1:g.52845476C>T | GRCh37 |
| NC_000012.10:g.51131743C>T | NCBI36 |
| NG_008299.1:g.5435G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.387G>A MANE Select | ENSP00000252252.3:p.Val129= | |
| ENST00000252252.3:c.387G>A | ENSP00000252252.3:p.Val129= | |
| NM_005555.3:c.387G>A | NP_005546.2:p.Val129= | |
| NM_005555.4:c.387G>A MANE Select | NP_005546.2:p.Val129= |