Linked Data
dbSNP Id:
rs756587594
ExAC:
1:43296707 T / C
gnomAD v2:
1-43296707-T-C
gnomAD v4:
1-42831036-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42831036T>C , CM000663.2:g.42831036T>C | GRCh38 |
| NC_000001.10:g.43296707T>C , CM000663.1:g.43296707T>C | GRCh37 |
| NC_000001.9:g.43069294T>C | NCBI36 |
| NG_008749.1:g.18932T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372517.8:c.354T>C MANE Select | ENSP00000361595.2:p.Leu118= | |
| ENST00000487556.6:n.452-4002T>C | ||
| ENST00000642150.1:n.541T>C | ||
| ENST00000647120.1:n.248-4002T>C | ||
| ENST00000328249.3:c.84T>C | ENSP00000332439.3:p.Leu28= | |
| ENST00000372514.7:c.354T>C | ENSP00000361592.3:p.Leu118= | |
| ENST00000372517.6:c.354T>C | ENSP00000361595.2:p.Leu118= | |
| ENST00000487556.5:n.247-4002T>C | ||
| NM_001017922.1:c.354T>C | NP_001017922.1:p.Leu118= | |
| NM_018538.3:c.354T>C | NP_061008.2:p.Leu118= | |
| XM_006710313.2:c.354T>C | XP_006710376.1:p.Leu118= | |
| XM_011540570.1:c.354T>C | XP_011538872.1:p.Leu118= | |
| XM_011540571.1:c.354T>C | XP_011538873.1:p.Leu118= | |
| XM_006710313.4:c.354T>C | XP_006710376.1:p.Leu118= | |
| XM_011540570.3:c.354T>C | XP_011538872.1:p.Leu118= | |
| XM_011540571.3:c.354T>C | XP_011538873.1:p.Leu118= | |
| NM_001017922.2:c.354T>C MANE Select | NP_001017922.1:p.Leu118= | |
| NM_018538.4:c.354T>C | NP_061008.2:p.Leu118= |