Linked Data
dbSNP Id:
rs758354727
ExAC:
10:104594691 C / G
gnomAD v2:
10-104594691-C-G
gnomAD v3:
10-102834934-C-G
gnomAD v4:
10-102834934-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102834934C>G , CM000672.2:g.102834934C>G | GRCh38 |
| NC_000010.10:g.104594691C>G , CM000672.1:g.104594691C>G | GRCh37 |
| NC_000010.9:g.104584681C>G | NCBI36 |
| NG_007955.1:g.7600G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.517G>C MANE Select | ENSP00000358903.3:p.Val173Leu | |
| ENST00000638190.1:c.517G>C | ENSP00000492539.1:p.Val173Leu | |
| ENST00000638272.1:c.298-1726G>C | ENSP00000491508.1:n.298-1726G>C | |
| ENST00000638971.1:c.517G>C | ENSP00000492313.1:p.Val173Leu | |
| ENST00000639393.1:c.517G>C | ENSP00000492651.1:p.Val173Leu | |
| ENST00000640633.1:n.279G>C | ||
| ENST00000369887.3:c.517G>C | ENSP00000358903.3:p.Val173Leu | |
| ENST00000489268.1:n.771G>C | ||
| NM_000102.3:c.517G>C | NP_000093.1:p.Val173Leu | |
| NM_000102.4:c.517G>C MANE Select | NP_000093.1:p.Val173Leu |