Linked Data
ClinVar Variation Id:
1094228
dbSNP Id:
rs1486960561
gnomAD v2:
1-215901576-C-G
gnomAD v4:
1-215728234-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215728234C>G , CM000663.2:g.215728234C>G | GRCh38 |
| NC_000001.10:g.215901576C>G , CM000663.1:g.215901576C>G | GRCh37 |
| NC_000001.9:g.213968199C>G | NCBI36 |
| NG_009497.1:g.700163G>C | |
| NG_009497.2:g.700215G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11862G>C MANE Select | ENSP00000305941.3:p.Leu3954= | |
| ENST00000674083.1:c.11862G>C | ENSP00000501296.1:p.Leu3954= | |
| ENST00000307340.7:c.11862G>C | ENSP00000305941.3:p.Leu3954= | |
| NM_206933.2:c.11862G>C | NP_996816.2:p.Leu3954= | |
| NM_206933.3:c.11862G>C | NP_996816.2:p.Leu3954= | |
| NM_206933.4:c.11862G>C MANE Select | NP_996816.3:p.Leu3954= |