Linked Data
dbSNP Id:
rs780882212
ExAC:
5:96350621 T / C
gnomAD v2:
5-96350621-T-C
gnomAD v4:
5-97014917-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.97014917T>C , CM000667.2:g.97014917T>C | GRCh38 |
| NC_000005.9:g.96350621T>C , CM000667.1:g.96350621T>C | GRCh37 |
| NC_000005.8:g.96376377T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231368.10:c.2220-22T>C MANE Select | ENSP00000231368.5:n.2220-22T>C | |
| ENST00000231368.9:c.2220-22T>C | ENSP00000231368.5:n.2220-22T>C | |
| ENST00000395770.3:c.2178-22T>C | ENSP00000379117.3:n.2178-22T>C | |
| NM_005575.2:c.2220-22T>C | NP_005566.2:n.2220-22T>C | |
| NM_175920.3:c.2178-22T>C | NP_787116.2:n.2178-22T>C | |
| XM_024446045.1:c.2220-22T>C | XP_024301813.1:n.2220-22T>C | |
| NM_005575.3:c.2220-22T>C MANE Select | NP_005566.2:n.2220-22T>C | |
| NM_175920.4:c.2178-22T>C | NP_787116.2:n.2178-22T>C |