Linked Data
dbSNP Id:
rs756975134
ExAC:
2:31805715 G / C
gnomAD v2:
2-31805715-G-C
gnomAD v4:
2-31580645-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31580645G>C , CM000664.2:g.31580645G>C | GRCh38 |
| NC_000002.11:g.31805715G>C , CM000664.1:g.31805715G>C | GRCh37 |
| NC_000002.10:g.31659219G>C | NCBI36 |
| NG_008365.1:g.5327C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622030.2:c.256C>G MANE Select | ENSP00000477587.1:p.Leu86Val | |
| ENST00000622030.1:c.256C>G | ENSP00000477587.1:p.Leu86Val | |
| NM_000348.3:c.256C>G | NP_000339.2:p.Leu86Val | |
| XM_011533068.1:c.256C>G | XP_011531370.1:p.Leu86Val | |
| XM_011533070.1:c.27-46879C>G | XP_011531372.1:n.27-46879C>G | |
| XM_011533071.1:c.27-46879C>G | XP_011531373.1:n.27-46879C>G | |
| XM_011533072.1:c.27-46879C>G | XP_011531374.1:n.27-46879C>G | |
| XM_011533072.2:c.27-46879C>G | XP_011531374.1:n.27-46879C>G | |
| NM_000348.4:c.256C>G MANE Select | NP_000339.2:p.Leu86Val |