Linked Data
ClinVar Variation Id:
1693613
ClinVar RCV Id:
RCV002508849
dbSNP Id:
rs12059860
gnomAD v2:
1-47284923-T-C
gnomAD v3:
1-46819251-T-C
gnomAD v4:
1-46819251-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46819251T>C , CM000663.2:g.46819251T>C | GRCh38 |
| NC_000001.10:g.47284923T>C , CM000663.1:g.47284923T>C | GRCh37 |
| NC_000001.9:g.47057510T>C | NCBI36 |
| NG_007939.1:g.25254T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371923.9:c.*437T>C MANE Select | ENSP00000360991.4:n.*437T>C | |
| ENST00000271153.8:c.*437T>C | ENSP00000271153.4:n.*437T>C | |
| ENST00000371923.8:c.*437T>C | ENSP00000360991.4:n.*437T>C | |
| ENST00000464439.6:c.*925T>C | ENSP00000433068.1:n.*925T>C | |
| NM_000779.3:c.*437T>C | NP_000770.2:n.*437T>C | |
| NM_001099772.1:c.*437T>C | NP_001093242.1:n.*437T>C | |
| XM_011540831.1:c.*437T>C | XP_011539133.1:n.*437T>C | |
| XM_011540833.1:c.*437T>C | XP_011539135.1:n.*437T>C | |
| XM_011540834.1:c.*437T>C | XP_011539136.1:n.*437T>C | |
| NM_001319161.1:c.*437T>C | NP_001306090.1:n.*437T>C | |
| NM_001319162.1:c.*437T>C | NP_001306091.1:n.*437T>C | |
| NM_001319163.1:c.*437T>C | NP_001306092.1:n.*437T>C | |
| NR_135003.1:n.1987T>C | ||
| XM_017000466.1:c.*437T>C | XP_016855955.1:n.*437T>C | |
| NM_000779.4:c.*437T>C | NP_000770.2:n.*437T>C | |
| NM_001099772.2:c.*437T>C MANE Select | NP_001093242.1:n.*437T>C | |
| NM_001319161.2:c.*437T>C | NP_001306090.1:n.*437T>C | |
| NM_001319162.2:c.*437T>C | NP_001306091.1:n.*437T>C | |
| NM_001319163.2:c.*437T>C | NP_001306092.1:n.*437T>C | |
| NR_135003.2:n.1939T>C |