Linked Data
ClinVar Variation Id:
137139
dbSNP Id:
rs10814431
ExAC:
9:377111 G / C
gnomAD v2:
9-377111-G-C
gnomAD v3:
9-377111-G-C
gnomAD v4:
9-377111-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.377111G>C , CM000671.2:g.377111G>C | GRCh38 |
| NC_000009.11:g.377111G>C , CM000671.1:g.377111G>C | GRCh37 |
| NC_000009.10:g.367111G>C | NCBI36 |
| NG_017007.1:g.167247G>C , LRG_196:g.167247G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382329.2:c.2136G>C | ENSP00000371766.2:p.Leu712= | |
| ENST00000382331.6:n.837G>C | ||
| ENST00000483757.6:c.*1027G>C | ENSP00000417691.2:n.*1027G>C | |
| ENST00000682260.1:n.2236G>C | ||
| ENST00000685949.1:n.1128G>C | ||
| ENST00000432829.7:c.2340G>C MANE Select | ENSP00000394888.3:p.Leu780= | |
| ENST00000382329.1:c.741G>C | ENSP00000371766.1:p.Leu247= | |
| ENST00000382331.5:c.246G>C | ENSP00000371768.1:p.Leu82= | |
| ENST00000432829.6:c.2340G>C | ENSP00000394888.3:p.Leu780= | |
| ENST00000453981.5:c.2136G>C | ENSP00000408464.2:p.Leu712= | |
| ENST00000469391.5:c.2136G>C | ENSP00000419438.1:p.Leu712= | |
| ENST00000483757.5:c.*1815G>C | ENSP00000417691.1:n.*1815G>C | |
| ENST00000495184.5:n.4295G>C | ||
| NM_001190458.1:c.2136G>C | NP_001177387.1:p.Leu712= | |
| NM_001193536.1:c.2136G>C | NP_001180465.1:p.Leu712= | |
| NM_203447.3:c.2340G>C , LRG_196t1:c.2340G>C | NP_982272.2:p.Leu780= | |
| XM_011518045.1:c.2136G>C | XP_011516347.1:p.Leu712= | |
| XM_011518046.1:c.2202G>C | XP_011516348.1:p.Leu734= | |
| XM_011518047.1:c.2136G>C | XP_011516349.1:p.Leu712= | |
| XM_011518048.1:c.2136G>C | XP_011516350.1:p.Leu712= | |
| XM_011518049.1:c.576G>C | XP_011516351.1:p.Leu192= | |
| XM_011518045.3:c.2136G>C | XP_011516347.1:p.Leu712= | |
| XM_011518046.2:c.2202G>C | XP_011516348.1:p.Leu734= | |
| XM_011518047.3:c.2136G>C | XP_011516349.1:p.Leu712= | |
| XM_011518048.2:c.2136G>C | XP_011516350.1:p.Leu712= | |
| XM_011518049.2:c.576G>C | XP_011516351.1:p.Leu192= | |
| XM_017015173.1:c.2136G>C | XP_016870662.1:p.Leu712= | |
| XM_017015174.1:c.2202G>C | XP_016870663.1:p.Leu734= | |
| NM_001190458.2:c.2136G>C | NP_001177387.1:p.Leu712= | |
| NM_001193536.2:c.2136G>C | NP_001180465.1:p.Leu712= | |
| NM_203447.4:c.2340G>C MANE Select | NP_982272.2:p.Leu780= |