Linked Data
dbSNP Id:
rs782725069
ExAC:
10:48388780 G / C
gnomAD v2:
10-48388780-G-C
gnomAD v4:
10-47350582-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350582C>G , CM000672.2:g.47350582C>G | GRCh38 |
| NC_000010.10:g.48388780G>C , CM000672.1:g.48388780G>C | GRCh37 |
| NC_000010.9:g.48008786G>C | NCBI36 |
| NG_029718.1:g.7212C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.2098C>G MANE Select | ENSP00000463151.1:p.Leu700Val | |
| ENST00000584701.1:c.2098C>G | ENSP00000463151.1:p.Leu700Val | |
| NM_002900.2:c.2098C>G | NP_002891.1:p.Leu700Val | |
| NM_002900.3:c.2098C>G MANE Select | NP_002891.1:p.Leu700Val |