Linked Data
dbSNP Id:
rs1934951
gnomAD v2:
10-96798548-C-T
gnomAD v3:
10-95038791-C-T
gnomAD v4:
10-95038791-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95038791C>T , CM000672.2:g.95038791C>T | GRCh38 |
| NC_000010.10:g.96798548C>T , CM000672.1:g.96798548C>T | GRCh37 |
| NC_000010.9:g.96788538C>T | NCBI36 |
| NG_007972.1:g.35707G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371270.6:c.1291+106G>A MANE Select | ENSP00000360317.3:n.1291+106G>A | |
| ENST00000371270.5:c.1291+106G>A | ENSP00000360317.3:n.1291+106G>A | |
| ENST00000490994.6:c.*1077+106G>A | ENSP00000433314.1:n.*1077+106G>A | |
| ENST00000525991.5:c.*866+106G>A | ENSP00000433842.1:n.*866+106G>A | |
| ENST00000526814.5:n.1546+106G>A | ||
| ENST00000527420.5:c.*148+106G>A | ENSP00000433191.1:n.*148+106G>A | |
| ENST00000527953.5:n.1585+106G>A | ||
| ENST00000531714.1:n.479+106G>A | ||
| ENST00000533320.5:n.1525+106G>A | ||
| ENST00000535898.5:c.985+106G>A | ENSP00000445062.1:n.985+106G>A | |
| ENST00000539050.5:c.1081+106G>A | ENSP00000442343.2:n.1081+106G>A | |
| ENST00000623108.3:c.1081+106G>A | ENSP00000485110.1:n.1081+106G>A | |
| NM_000770.3:c.1291+106G>A MANE Select | NP_000761.3:n.1291+106G>A | |
| NM_001198853.1:c.1081+106G>A | NP_001185782.1:n.1081+106G>A | |
| NM_001198854.1:c.985+106G>A | NP_001185783.1:n.985+106G>A | |
| NM_001198855.1:c.1081+106G>A | NP_001185784.1:n.1081+106G>A | |
| XR_945610.1:n.1426+106G>A |