Linked Data
ClinVar Variation Id:
475956
dbSNP Id:
rs201003473
gnomAD v2:
7-103251158-G-C
gnomAD v3:
7-103610711-G-C
gnomAD v4:
7-103610711-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103610711G>C , CM000669.2:g.103610711G>C | GRCh38 |
| NC_000007.13:g.103251158G>C , CM000669.1:g.103251158G>C | GRCh37 |
| NC_000007.12:g.103038394G>C | NCBI36 |
| NG_011877.1:g.383806C>G | |
| NG_011877.2:g.383806C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.2992C>G | ENSP00000388446.3:p.Leu998Val | |
| ENST00000428762.6:c.2992C>G MANE Select | ENSP00000392423.1:p.Leu998Val | |
| ENST00000679867.1:n.2876C>G | ||
| ENST00000680706.1:n.695C>G | ||
| ENST00000681034.1:c.2992C>G | ENSP00000506075.1:p.Leu998Val | |
| ENST00000343529.9:c.2992C>G | ENSP00000345694.5:p.Leu998Val | |
| ENST00000424685.2:c.2992C>G | ENSP00000388446.2:p.Leu998Val | |
| ENST00000428762.5:c.2992C>G | ENSP00000392423.1:p.Leu998Val | |
| NM_005045.3:c.2992C>G | NP_005036.2:p.Leu998Val | |
| NM_173054.2:c.2992C>G | NP_774959.1:p.Leu998Val | |
| NM_005045.4:c.2992C>G MANE Select | NP_005036.2:p.Leu998Val | |
| NM_173054.3:c.2992C>G | NP_774959.1:p.Leu998Val |