Linked Data
ClinVar Variation Id:
1160333
dbSNP Id:
rs999157792
gnomAD v4:
5-80675062-G-C
MyVariant Identifiers:
chr5:g.79970881G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80675062G>C , CM000667.2:g.80675062G>C | GRCh38 |
| NC_000005.9:g.79970881G>C , CM000667.1:g.79970881G>C | GRCh37 |
| NC_000005.8:g.80006637G>C | NCBI36 |
| NG_016607.1:g.25588G>C | |
| NG_016607.2:g.25588G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265081.7:c.1107G>C MANE Select | ENSP00000265081.6:p.Leu369= | |
| ENST00000658259.1:c.939G>C | ENSP00000499617.1:p.Leu313= | |
| ENST00000667069.1:c.1107G>C | ENSP00000499502.1:p.Leu369= | |
| ENST00000670357.1:c.1107G>C | ENSP00000499791.1:p.Leu369= | |
| ENST00000265081.6:c.1107G>C | ENSP00000265081.6:p.Leu369= | |
| NM_002439.4:c.1107G>C | NP_002430.3:p.Leu369= | |
| NM_002439.5:c.1107G>C MANE Select | NP_002430.3:p.Leu369= |