Linked Data
dbSNP Id:
rs11572079
ExAC:
10:96827118 A / G
gnomAD v2:
10-96827118-A-G
gnomAD v3:
10-95067361-A-G
gnomAD v4:
10-95067361-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95067361A>G , CM000672.2:g.95067361A>G | GRCh38 |
| NC_000010.10:g.96827118A>G , CM000672.1:g.96827118A>G | GRCh37 |
| NC_000010.9:g.96817108A>G | NCBI36 |
| NG_007972.1:g.7137T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371270.6:c.332-4T>C MANE Select | ENSP00000360317.3:n.332-4T>C | |
| ENST00000371270.5:c.332-4T>C | ENSP00000360317.3:n.332-4T>C | |
| ENST00000479946.2:n.632T>C | ||
| ENST00000490994.6:c.*118-4T>C | ENSP00000433314.1:n.*118-4T>C | |
| ENST00000525991.5:c.207-4T>C | ENSP00000433842.1:n.207-4T>C | |
| ENST00000526814.5:n.583T>C | ||
| ENST00000527420.5:c.332-4T>C | ENSP00000433191.1:n.332-4T>C | |
| ENST00000527953.5:n.583T>C | ||
| ENST00000533320.5:n.562T>C | ||
| ENST00000535898.5:c.26-4T>C | ENSP00000445062.1:n.26-4T>C | |
| ENST00000539050.5:c.122-4T>C | ENSP00000442343.2:n.122-4T>C | |
| ENST00000623108.3:c.122-4T>C | ENSP00000485110.1:n.122-4T>C | |
| ENST00000628935.1:c.70T>C | ENSP00000487145.1:p.Leu24= | |
| NM_000770.3:c.332-4T>C MANE Select | NP_000761.3:n.332-4T>C | |
| NM_001198853.1:c.122-4T>C | NP_001185782.1:n.122-4T>C | |
| NM_001198854.1:c.26-4T>C | NP_001185783.1:n.26-4T>C | |
| NM_001198855.1:c.122-4T>C | NP_001185784.1:n.122-4T>C | |
| XR_945610.1:n.428-4T>C |