Linked Data
dbSNP Id:
rs10981694
gnomAD v2:
9-115986409-T-G
gnomAD v3:
9-113224129-T-G
gnomAD v4:
9-113224129-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.113224129T>G , CM000671.2:g.113224129T>G | GRCh38 |
| NC_000009.11:g.115986409T>G , CM000671.1:g.115986409T>G | GRCh37 |
| NC_000009.10:g.115026230T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374212.5:c.-36+2451T>G MANE Select | ENSP00000363329.4:n.-36+2451T>G | |
| ENST00000374212.4:c.-36+2451T>G | ENSP00000363329.4:n.-36+2451T>G | |
| ENST00000496650.1:n.92+2451T>G | ||
| NM_001859.3:c.-36+2451T>G | NP_001850.1:n.-36+2451T>G | |
| XR_002956933.1:n.167-804A>C | ||
| NM_001859.4:c.-36+2451T>G MANE Select | NP_001850.1:n.-36+2451T>G |