Linked Data
ClinVar Variation Id:
217704
dbSNP Id:
rs755459875
ExAC:
11:61165414 T / G
gnomAD v2:
11-61165414-T-G
gnomAD v3:
11-61397942-T-G
gnomAD v4:
11-61397942-T-G
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61397942T>G , CM000673.2:g.61397942T>G | GRCh38 |
| NC_000011.9:g.61165414T>G , CM000673.1:g.61165414T>G | GRCh37 |
| NC_000011.8:g.60921990T>G | NCBI36 |
| NG_032976.1:g.10583T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334888.10:c.398T>G | ENSP00000334844.5:p.Leu133Ter | |
| ENST00000544795.6:n.721T>G | ||
| ENST00000684926.1:n.460T>G | ||
| ENST00000688959.1:c.140T>G | ENSP00000509213.1:p.Leu47Ter | |
| ENST00000690736.1:c.*123T>G | ENSP00000508542.1:n.*123T>G | |
| ENST00000515837.7:c.398T>G MANE Select | ENSP00000440638.1:p.Leu133Ter | |
| ENST00000334888.9:c.398T>G | ENSP00000334844.5:p.Leu133Ter | |
| ENST00000398979.7:c.215T>G | ENSP00000381950.3:p.Leu72Ter | |
| ENST00000515837.6:c.398T>G | ENSP00000440638.1:p.Leu133Ter | |
| ENST00000544795.5:n.460T>G | ||
| NM_001173990.2:c.398T>G | NP_001167461.1:p.Leu133Ter | |
| NM_001173991.2:c.398T>G | NP_001167462.1:p.Leu133Ter | |
| NM_016499.5:c.215T>G | NP_057583.2:p.Leu72Ter | |
| XM_005274039.3:c.215T>G | XP_005274096.1:p.Leu72Ter | |
| NM_001330285.1:c.215T>G | NP_001317214.1:p.Leu72Ter | |
| XM_005274039.4:c.215T>G | XP_005274096.1:p.Leu72Ter | |
| NM_001173990.3:c.398T>G MANE Select | NP_001167461.1:p.Leu133Ter | |
| NM_001173991.3:c.398T>G | NP_001167462.1:p.Leu133Ter | |
| NM_001330285.2:c.215T>G | NP_001317214.1:p.Leu72Ter | |
| NM_016499.6:c.215T>G | NP_057583.2:p.Leu72Ter |