Linked Data
ClinVar Variation Id:
255403
ClinVar RCV Id:
RCV000247294
dbSNP Id:
rs149475648
ExAC:
5:42688957 G / C
gnomAD v2:
5-42688957-G-C
gnomAD v3:
5-42688855-G-C
gnomAD v4:
5-42688855-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.42688855G>C , CM000667.2:g.42688855G>C | GRCh38 |
| NC_000005.9:g.42688957G>C , CM000667.1:g.42688957G>C | GRCh37 |
| NC_000005.8:g.42724714G>C | NCBI36 |
| NG_011688.1:g.269932G>C | |
| NG_011688.2:g.269932G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230882.9:c.137-35G>C MANE Select | ENSP00000230882.4:n.137-35G>C | |
| ENST00000230882.8:c.137-35G>C | ENSP00000230882.4:n.137-35G>C | |
| ENST00000357703.6:c.71-35G>C | ENSP00000350335.3:n.71-35G>C | |
| ENST00000511135.5:c.137-6062G>C | ENSP00000422333.1:n.137-6062G>C | |
| ENST00000537449.5:c.137-35G>C | ENSP00000442206.2:n.137-35G>C | |
| ENST00000612382.4:c.137-35G>C | ENSP00000478332.1:n.137-35G>C | |
| ENST00000612626.4:c.137-35G>C | ENSP00000479846.1:n.137-35G>C | |
| ENST00000615111.4:c.137-35G>C | ENSP00000478291.1:n.137-35G>C | |
| ENST00000618088.4:c.137-35G>C | ENSP00000482373.1:n.137-35G>C | |
| ENST00000620156.4:c.158-35G>C | ENSP00000483403.1:n.158-35G>C | |
| ENST00000622294.2:c.137-35G>C | ENSP00000483926.1:n.137-35G>C | |
| NM_000163.4:c.137-35G>C | NP_000154.1:n.137-35G>C | |
| NM_001242399.2:c.158-35G>C | NP_001229328.1:n.158-35G>C | |
| NM_001242400.2:c.137-35G>C | NP_001229329.1:n.137-35G>C | |
| NM_001242401.3:c.137-35G>C | NP_001229330.1:n.137-35G>C | |
| NM_001242402.2:c.137-35G>C | NP_001229331.1:n.137-35G>C | |
| NM_001242403.2:c.137-35G>C | NP_001229332.1:n.137-35G>C | |
| NM_001242404.2:c.137-35G>C | NP_001229333.1:n.137-35G>C | |
| NM_001242405.2:c.137-35G>C | NP_001229334.1:n.137-35G>C | |
| NM_001242406.2:c.137-35G>C | NP_001229335.1:n.137-35G>C | |
| NM_001242460.1:c.71-35G>C | NP_001229389.1:n.71-35G>C | |
| NM_001242462.1:c.137-35G>C | NP_001229391.1:n.137-35G>C | |
| XM_011514031.1:c.92-35G>C | XP_011512333.1:n.92-35G>C | |
| NM_000163.5:c.137-35G>C MANE Select | NP_000154.1:n.137-35G>C | |
| NM_001242401.4:c.137-35G>C | NP_001229330.1:n.137-35G>C | |
| NM_001242403.3:c.137-35G>C | NP_001229332.1:n.137-35G>C |