Linked Data
ClinVar Variation Id:
138479
ClinVar RCV Id:
RCV000195297
RCV000513877
RCV000605317
RCV001143218
RCV001282631
RCV001143217
RCV003925255
dbSNP Id:
rs78042826
ExAC:
2:207003310 G / C
gnomAD v2:
2-207003310-G-C
gnomAD v3:
2-206138586-G-C
gnomAD v4:
2-206138586-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206138586G>C , CM000664.2:g.206138586G>C | GRCh38 |
| NC_000002.11:g.207003310G>C , CM000664.1:g.207003310G>C | GRCh37 |
| NC_000002.10:g.206711555G>C | NCBI36 |
| NG_009248.1:g.25878C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233190.11:c.1291C>G MANE Select | ENSP00000233190.5:p.Leu431Val | |
| ENST00000233190.10:c.1291C>G | ENSP00000233190.5:p.Leu431Val | |
| ENST00000423725.5:c.1120C>G | ENSP00000397760.1:p.Leu374Val | |
| ENST00000432169.5:c.958C>G | ENSP00000409689.1:p.Leu320Val | |
| ENST00000440274.5:c.1183C>G | ENSP00000409766.1:p.Leu395Val | |
| ENST00000449699.5:c.1291C>G | ENSP00000399912.1:p.Leu431Val | |
| ENST00000455934.6:c.1333C>G | ENSP00000392709.2:p.Leu445Val | |
| ENST00000457011.5:c.943C>G | ENSP00000400976.1:p.Leu315Val | |
| NM_001199981.1:c.1183C>G | NP_001186910.1:p.Leu395Val | |
| NM_001199982.1:c.958C>G | NP_001186911.1:p.Leu320Val | |
| NM_001199983.1:c.1120C>G | NP_001186912.1:p.Leu374Val | |
| NM_001199984.1:c.1333C>G | NP_001186913.1:p.Leu445Val | |
| NM_005006.6:c.1291C>G | NP_004997.4:p.Leu431Val | |
| XM_017004188.2:c.532C>G | XP_016859677.1:p.Leu178Val | |
| NM_001199981.2:c.1183C>G | NP_001186910.1:p.Leu395Val | |
| NM_001199982.2:c.958C>G | NP_001186911.1:p.Leu320Val | |
| NM_001199983.2:c.1120C>G | NP_001186912.1:p.Leu374Val | |
| NM_005006.7:c.1291C>G MANE Select | NP_004997.4:p.Leu431Val | |
| NM_001199984.2:c.1333C>G | NP_001186913.1:p.Leu445Val |