Linked Data
dbSNP Id:
rs757001092
ExAC:
2:128185968 C / G
gnomAD v2:
2-128185968-C-G
gnomAD v3:
2-127428392-C-G
gnomAD v4:
2-127428392-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127428392C>G , CM000664.2:g.127428392C>G | GRCh38 |
| NC_000002.11:g.128185968C>G , CM000664.1:g.128185968C>G | GRCh37 |
| NC_000002.10:g.127902438C>G | NCBI36 |
| NG_016323.1:g.14973C>G , LRG_599:g.14973C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.832C>G MANE Select | ENSP00000234071.4:p.Leu278Val | |
| ENST00000234071.7:c.832C>G | ENSP00000234071.3:p.Leu278Val | |
| ENST00000402125.2:c.156C>G | ||
| ENST00000409048.1:c.934C>G | ENSP00000386679.1:p.Leu312Val | |
| NM_000312.3:c.832C>G , LRG_599t1:c.832C>G | NP_000303.1:p.Leu278Val | |
| XM_005263715.3:c.1015C>G | XP_005263772.1:p.Leu339Val | |
| XM_005263716.3:c.997C>G | XP_005263773.1:p.Leu333Val | |
| XM_005263717.3:c.895C>G | XP_005263774.1:p.Leu299Val | |
| XR_923313.1:n.1332-128G>C | ||
| XM_005263717.4:c.895C>G | XP_005263774.1:p.Leu299Val | |
| XM_017004505.1:c.1075C>G | XP_016859994.1:p.Leu359Val | |
| XM_024453002.1:c.1177C>G | XP_024308770.1:p.Leu393Val | |
| XM_024453003.1:c.1117C>G | XP_024308771.1:p.Leu373Val | |
| XM_024453004.1:c.1015C>G | XP_024308772.1:p.Leu339Val | |
| XM_024453005.1:c.997C>G | XP_024308773.1:p.Leu333Val | |
| XM_024453006.1:c.934C>G | XP_024308774.1:p.Leu312Val | |
| XR_001739705.1:n.3607-128G>C | ||
| XR_923313.2:n.4043-128G>C | ||
| NM_000312.4:c.832C>G MANE Select | NP_000303.1:p.Leu278Val | |
| NM_001375602.1:c.1015C>G | NP_001362531.1:p.Leu339Val | |
| NM_001375603.1:c.997C>G | NP_001362532.1:p.Leu333Val | |
| NM_001375604.1:c.895C>G | NP_001362533.1:p.Leu299Val | |
| NM_001375605.1:c.934C>G | NP_001362534.1:p.Leu312Val | |
| NM_001375606.1:c.1000C>G | NP_001362535.1:p.Leu334Val | |
| NM_001375607.1:c.1018C>G | NP_001362536.1:p.Leu340Val | |
| NM_001375608.1:c.775C>G | NP_001362537.1:p.Leu259Val | |
| NM_001375609.1:c.808C>G | NP_001362538.1:p.Leu270Val | |
| NM_001375610.1:c.826C>G | NP_001362539.1:p.Leu276Val | |
| NM_001375611.1:c.832C>G | NP_001362540.1:p.Leu278Val | |
| NM_001375613.1:c.832C>G | NP_001362542.1:p.Leu278Val |