Linked Data
dbSNP Id:
rs780973226
ExAC:
10:121431751 C / A
gnomAD v2:
10-121431751-C-A
gnomAD v4:
10-119672239-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672239C>A , CM000672.2:g.119672239C>A | GRCh38 |
| NC_000010.10:g.121431751C>A , CM000672.1:g.121431751C>A | GRCh37 |
| NC_000010.9:g.121421741C>A | NCBI36 |
| NG_016125.1:g.25870C>A , LRG_742:g.25870C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.508-16C>A MANE Select | ENSP00000358081.4:n.508-16C>A | |
| ENST00000369085.7:c.508-16C>A | ENSP00000358081.3:n.508-16C>A | |
| ENST00000450186.1:c.334-16C>A | ENSP00000410036.1:n.334-16C>A | |
| NM_004281.3:c.508-16C>A , LRG_742t1:c.508-16C>A | NP_004272.2:n.508-16C>A | |
| XM_005270287.1:c.508-16C>A | XP_005270344.1:n.508-16C>A | |
| XM_005270287.2:c.508-16C>A | XP_005270344.1:n.508-16C>A | |
| NM_004281.4:c.508-16C>A MANE Select | NP_004272.2:n.508-16C>A |