Linked Data
dbSNP Id:
rs748203597
ExAC:
12:116420222 T / C
gnomAD v2:
12-116420222-T-C
gnomAD v3:
12-115982417-T-C
gnomAD v4:
12-115982417-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115982417T>C , CM000674.2:g.115982417T>C | GRCh38 |
| NC_000012.11:g.116420222T>C , CM000674.1:g.116420222T>C | GRCh37 |
| NC_000012.10:g.114904605T>C | NCBI36 |
| NG_023366.1:g.299770A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.5142A>G MANE Select | ENSP00000281928.3:p.Leu1714= | |
| ENST00000549786.2:c.4570A>G | ||
| ENST00000648379.1:n.3510A>G | ||
| ENST00000648737.1:n.4906A>G | ||
| ENST00000648825.1:n.1882A>G | ||
| ENST00000648916.1:n.3153A>G | ||
| ENST00000649146.1:n.2385A>G | ||
| ENST00000649607.1:c.3326A>G | ||
| ENST00000649775.1:c.1631A>G | ||
| ENST00000650226.1:c.5142A>G | ENSP00000496981.1:p.Leu1714= | |
| ENST00000281928.7:c.5142A>G | ENSP00000281928.3:p.Leu1714= | |
| ENST00000549786.1:c.506A>G | ||
| ENST00000552340.1:c.174A>G | ENSP00000449876.1:p.Leu58= | |
| NM_015335.4:c.5142A>G | NP_056150.1:p.Leu1714= | |
| XM_011538080.1:c.5142A>G | XP_011536382.1:p.Leu1714= | |
| XM_011538081.1:c.5139A>G | XP_011536383.1:p.Leu1713= | |
| XM_011538082.1:c.5112A>G | XP_011536384.1:p.Leu1704= | |
| XM_011538080.2:c.5142A>G | XP_011536382.1:p.Leu1714= | |
| XM_011538081.2:c.5139A>G | XP_011536383.1:p.Leu1713= | |
| XM_011538082.2:c.5112A>G | XP_011536384.1:p.Leu1704= | |
| XM_017019090.1:c.5139A>G | XP_016874579.1:p.Leu1713= | |
| NM_015335.5:c.5142A>G MANE Select | NP_056150.1:p.Leu1714= |