Linked Data
dbSNP Id:
rs11121382
gnomAD v2:
1-9411469-G-C
gnomAD v3:
1-9351410-G-C
gnomAD v4:
1-9351410-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.9351410G>C , CM000663.2:g.9351410G>C | GRCh38 |
| NC_000001.10:g.9411469G>C , CM000663.1:g.9411469G>C | GRCh37 |
| NC_000001.9:g.9334056G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328089.11:c.-149-4333G>C MANE Select | ENSP00000330221.6:n.-149-4333G>C | |
| ENST00000328089.10:c.-149-4333G>C | ENSP00000330221.6:n.-149-4333G>C | |
| ENST00000450402.1:c.-149-4333G>C | ENSP00000409235.1:n.-149-4333G>C | |
| NM_025106.3:c.-149-4333G>C | NP_079382.2:n.-149-4333G>C | |
| NM_025106.4:c.-149-4333G>C MANE Select | NP_079382.2:n.-149-4333G>C |