Linked Data
ClinVar Variation Id:
365936
ClinVar RCV Id:
RCV000282778
dbSNP Id:
rs886063724
gnomAD v2:
9-139581813-C-G
gnomAD v3:
9-136687361-C-G
gnomAD v4:
9-136687361-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136687361C>G , CM000671.2:g.136687361C>G | GRCh38 |
| NC_000009.11:g.139581813C>G , CM000671.1:g.139581813C>G | GRCh37 |
| NC_000009.10:g.138701634C>G | NCBI36 |
| NG_008090.1:g.5099G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.-4G>C MANE Select | ENSP00000360761.2:n.-4G>C | |
| ENST00000371694.7:c.-4G>C | ENSP00000360759.3:n.-4G>C | |
| ENST00000371696.6:c.-4G>C | ENSP00000360761.2:n.-4G>C | |
| ENST00000470861.1:n.5G>C | ||
| ENST00000538402.1:c.-4G>C | ENSP00000438919.1:n.-4G>C | |
| NM_001012727.1:c.-4G>C | NP_001012745.1:n.-4G>C | |
| NM_006412.3:c.-4G>C | NP_006403.2:n.-4G>C | |
| NM_006412.4:c.-4G>C MANE Select | NP_006403.2:n.-4G>C | |
| NM_001012727.2:c.-4G>C | NP_001012745.1:n.-4G>C |