Linked Data
ClinVar Variation Id:
364086
dbSNP Id:
rs3176751
ExAC:
9:100437518 G / C
gnomAD v2:
9-100437518-G-C
gnomAD v3:
9-97675236-G-C
gnomAD v4:
9-97675236-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97675236G>C , CM000671.2:g.97675236G>C | GRCh38 |
| NC_000009.11:g.100437518G>C , CM000671.1:g.100437518G>C | GRCh37 |
| NC_000009.10:g.99477339G>C | NCBI36 |
| NG_011642.1:g.27174C>G , LRG_471:g.27174C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.*203C>G MANE Select | ENSP00000364270.5:n.*203C>G | |
| ENST00000375128.4:c.*203C>G | ENSP00000364270.4:n.*203C>G | |
| ENST00000462523.5:c.*461C>G | ENSP00000433006.1:n.*461C>G | |
| ENST00000485042.1:n.537C>G | ||
| NM_000380.3:c.*203C>G , LRG_471t1:c.*203C>G | NP_000371.1:n.*203C>G | |
| NR_027302.1:n.1373C>G | ||
| XM_006717278.1:c.772+253C>G | XP_006717341.1:n.772+253C>G | |
| XM_011518988.1:c.772+253C>G | XP_011517290.1:n.772+253C>G | |
| NM_001354975.1:c.*203C>G | NP_001341904.1:n.*203C>G | |
| NR_149091.1:n.870C>G | ||
| NR_149092.1:n.1036C>G | ||
| NR_149093.1:n.1562C>G | ||
| NR_149094.1:n.1456C>G | ||
| NM_000380.4:c.*203C>G MANE Select | NP_000371.1:n.*203C>G | |
| NM_001354975.2:c.*203C>G | NP_001341904.1:n.*203C>G | |
| NR_027302.2:n.1304C>G | ||
| NR_149091.2:n.801C>G | ||
| NR_149092.2:n.967C>G | ||
| NR_149093.2:n.1493C>G | ||
| NR_149094.2:n.1387C>G |