Linked Data
dbSNP Id:
rs137852799
ExAC:
2:175618961 C / G
gnomAD v2:
2-175618961-C-G
gnomAD v4:
2-174754233-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174754233C>G , CM000664.2:g.174754233C>G | GRCh38 |
| NC_000002.11:g.175618961C>G , CM000664.1:g.175618961C>G | GRCh37 |
| NC_000002.10:g.175327207C>G | NCBI36 |
| NG_008172.1:g.15240G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636168.2:c.37G>C | ENSP00000490338.2:p.Val13Leu | |
| ENST00000672640.1:c.37G>C | ENSP00000500507.1:p.Val13Leu | |
| ENST00000261007.9:c.601G>C | ENSP00000261007.5:p.Val201Leu | |
| ENST00000348749.9:c.526G>C MANE Select | ENSP00000261008.5:p.Val176Leu | |
| ENST00000409219.5:c.526G>C | ENSP00000386611.1:p.Val176Leu | |
| ENST00000409323.1:c.526G>C | ENSP00000386684.1:p.Val176Leu | |
| ENST00000409542.5:c.280G>C | ENSP00000387026.1:p.Val94Leu | |
| ENST00000435083.5:c.*170G>C | ENSP00000395805.1:n.*170G>C | |
| NM_000079.3:c.526G>C | NP_000070.1:p.Val176Leu | |
| NM_001039523.2:c.601G>C | NP_001034612.1:p.Val201Leu | |
| XM_017003256.1:c.622G>C | XP_016858745.1:p.Val208Leu | |
| XM_017003257.1:c.547G>C | XP_016858746.1:p.Val183Leu | |
| NM_000079.4:c.526G>C MANE Select | NP_000070.1:p.Val176Leu | |
| NM_001039523.3:c.601G>C | NP_001034612.1:p.Val201Leu |