Linked Data
dbSNP Id:
rs368299637
ExAC:
10:96826960 C / A
gnomAD v2:
10-96826960-C-A
gnomAD v3:
10-95067203-C-A
gnomAD v4:
10-95067203-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95067203C>A , CM000672.2:g.95067203C>A | GRCh38 |
| NC_000010.10:g.96826960C>A , CM000672.1:g.96826960C>A | GRCh37 |
| NC_000010.9:g.96816950C>A | NCBI36 |
| NG_007972.1:g.7295G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371270.6:c.481+5G>T MANE Select | ENSP00000360317.3:n.481+5G>T | |
| ENST00000371270.5:c.481+5G>T | ENSP00000360317.3:n.481+5G>T | |
| ENST00000479946.2:n.785+5G>T | ||
| ENST00000490994.6:c.*267+5G>T | ENSP00000433314.1:n.*267+5G>T | |
| ENST00000525991.5:c.*56+5G>T | ENSP00000433842.1:n.*56+5G>T | |
| ENST00000526814.5:n.736+5G>T | ||
| ENST00000527420.5:c.481+5G>T | ENSP00000433191.1:n.481+5G>T | |
| ENST00000527953.5:n.736+5G>T | ||
| ENST00000533320.5:n.715+5G>T | ||
| ENST00000535898.5:c.175+5G>T | ENSP00000445062.1:n.175+5G>T | |
| ENST00000539050.5:c.271+5G>T | ENSP00000442343.2:n.271+5G>T | |
| ENST00000623108.3:c.271+5G>T | ENSP00000485110.1:n.271+5G>T | |
| ENST00000628935.1:c.223+5G>T | ENSP00000487145.1:n.223+5G>T | |
| NM_000770.3:c.481+5G>T MANE Select | NP_000761.3:n.481+5G>T | |
| NM_001198853.1:c.271+5G>T | NP_001185782.1:n.271+5G>T | |
| NM_001198854.1:c.175+5G>T | NP_001185783.1:n.175+5G>T | |
| NM_001198855.1:c.271+5G>T | NP_001185784.1:n.271+5G>T | |
| XR_945610.1:n.577+5G>T |