Linked Data
ClinVar Variation Id:
319675
ClinVar RCV Id:
RCV000395096
dbSNP Id:
rs886052100
gnomAD v2:
16-53737960-G-C
gnomAD v3:
16-53704048-G-C
gnomAD v4:
16-53704048-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.53704048G>C , CM000678.2:g.53704048G>C | GRCh38 |
| NC_000016.9:g.53737960G>C , CM000678.1:g.53737960G>C | GRCh37 |
| NC_000016.8:g.52295461G>C | NCBI36 |
| NG_008991.2:g.4812C>G | |
| NG_012969.1:g.5086G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636218.1:c.-137G>C | ENSP00000489641.1:n.-137G>C | |
| ENST00000636491.1:c.-68+2227G>C | ENSP00000490047.1:n.-68+2227G>C | |
| ENST00000471389.5:c.-137G>C | ENSP00000418823.1:n.-137G>C | |
| NM_001080432.2:c.-137G>C | NP_001073901.1:n.-137G>C | |
| NM_001363891.1:c.-137G>C | NP_001350820.1:n.-137G>C | |
| NM_001363894.1:c.-137G>C | NP_001350823.1:n.-137G>C | |
| NM_001363896.1:c.-137G>C | NP_001350825.1:n.-137G>C | |
| NM_001363897.1:c.-137G>C | NP_001350826.1:n.-137G>C | |
| NM_001363898.1:c.-137G>C | NP_001350827.1:n.-137G>C | |
| NM_001363899.1:c.-137G>C | NP_001350828.1:n.-137G>C | |
| NM_001363900.1:c.-137G>C | NP_001350829.1:n.-137G>C | |
| NM_001363901.1:c.-137G>C | NP_001350830.1:n.-137G>C | |
| NM_001363903.1:c.-137G>C | NP_001350832.1:n.-137G>C | |
| NM_001363905.1:c.-829G>C | NP_001350834.1:n.-829G>C | |
| NM_001363988.1:c.-137G>C | NP_001350917.1:n.-137G>C | |
| NR_156761.1:n.86G>C |