Linked Data
dbSNP Id:
rs7076096
gnomAD v2:
10-87608460-C-T
gnomAD v3:
10-85848703-C-T
gnomAD v4:
10-85848703-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.85848703C>T , CM000672.2:g.85848703C>T | GRCh38 |
| NC_000010.10:g.87608460C>T , CM000672.1:g.87608460C>T | GRCh37 |
| NC_000010.9:g.87598440C>T | NCBI36 |
| NG_011875.1:g.522791G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327946.12:c.1233+5793G>A MANE Select | ENSP00000330148.7:n.1233+5793G>A | |
| ENST00000327946.11:c.1233+5793G>A | ENSP00000330148.7:n.1233+5793G>A | |
| ENST00000464741.2:c.1233+5793G>A | ENSP00000433064.1:n.1233+5793G>A | |
| ENST00000536331.5:c.453+5793G>A | ENSP00000444455.2:n.453+5793G>A | |
| NM_017551.2:c.1233+5793G>A | NP_060021.1:n.1233+5793G>A | |
| XM_011539720.1:c.1233+5793G>A | XP_011538022.1:n.1233+5793G>A | |
| XM_011539720.2:c.1233+5793G>A | XP_011538022.1:n.1233+5793G>A | |
| NM_017551.3:c.1233+5793G>A MANE Select | NP_060021.1:n.1233+5793G>A |