Linked Data
ClinVar Variation Id:
2142201
ClinVar RCV Id:
RCV003058942
dbSNP Id:
rs1749694236
gnomAD v3:
5-128300836-T-C
gnomAD v4:
5-128300836-T-C
MyVariant Identifiers:
chr5:g.127636528T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128300836T>C , CM000667.2:g.128300836T>C | GRCh38 |
| NC_000005.9:g.127636528T>C , CM000667.1:g.127636528T>C | GRCh37 |
| NC_000005.8:g.127664427T>C | NCBI36 |
| NG_008750.1:g.242208A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2931A>G | ||
| ENST00000703785.1:n.2850A>G | ||
| ENST00000262464.9:c.6147A>G MANE Select | ENSP00000262464.4:p.Val2049= | |
| ENST00000262464.8:c.6147A>G | ENSP00000262464.4:p.Val2049= | |
| ENST00000508053.5:c.6147A>G | ENSP00000424571.1:p.Val2049= | |
| ENST00000619499.4:c.6144A>G | ENSP00000482132.1:p.Val2048= | |
| NM_001999.3:c.6147A>G | NP_001990.2:p.Val2049= | |
| XM_017009228.2:c.5994A>G | XP_016864717.1:p.Val1998= | |
| NM_001999.4:c.6147A>G MANE Select | NP_001990.2:p.Val2049= |