Linked Data
ClinVar Variation Id:
1124482
ClinVar RCV Id:
RCV001455841
dbSNP Id:
rs1478400071
gnomAD v2:
9-116038058-G-T
gnomAD v4:
9-113275778-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.113275778G>T , CM000671.2:g.113275778G>T | GRCh38 |
| NC_000009.11:g.116038058G>T , CM000671.1:g.116038058G>T | GRCh37 |
| NC_000009.10:g.115077879G>T | NCBI36 |
| NG_034225.1:g.5145G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374198.5:c.27+8G>T MANE Select | ENSP00000363313.4:n.27+8G>T | |
| ENST00000374199.9:c.27+8G>T | ENSP00000363315.4:n.27+8G>T | |
| ENST00000374198.4:c.27+8G>T | ENSP00000363313.3:n.27+8G>T | |
| ENST00000374199.8:c.27+8G>T | ENSP00000363315.3:n.27+8G>T | |
| NM_001244926.1:c.27+8G>T | NP_001231855.1:n.27+8G>T | |
| NM_004697.4:c.27+8G>T | NP_004688.2:n.27+8G>T | |
| XM_011519181.1:c.27+8G>T | XP_011517483.1:n.27+8G>T | |
| NM_001322266.1:c.-739+8G>T | NP_001309195.1:n.-739+8G>T | |
| NM_001322267.1:c.-742+8G>T | NP_001309196.1:n.-742+8G>T | |
| NR_136265.1:n.137+8G>T | ||
| NR_136266.1:n.137+8G>T | ||
| NM_001244926.2:c.27+8G>T MANE Select | NP_001231855.1:n.27+8G>T | |
| NM_001322266.2:c.-739+8G>T | NP_001309195.1:n.-739+8G>T | |
| NM_001322267.2:c.-742+8G>T | NP_001309196.1:n.-742+8G>T | |
| NM_004697.5:c.27+8G>T | NP_004688.2:n.27+8G>T | |
| NR_136265.2:n.113+8G>T | ||
| NR_136266.2:n.113+8G>T |