Linked Data
ClinVar Variation Id:
507800
ClinVar RCV Id:
RCV000613813
dbSNP Id:
rs139749124
ExAC:
5:78325764 A / G
gnomAD v2:
5-78325764-A-G
gnomAD v3:
5-79029941-A-G
gnomAD v4:
5-79029941-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79029941A>G , CM000667.2:g.79029941A>G | GRCh38 |
| NC_000005.9:g.78325764A>G , CM000667.1:g.78325764A>G | GRCh37 |
| NC_000005.8:g.78361520A>G | NCBI36 |
| NG_012164.1:g.44686T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255189.8:c.1777T>C MANE Select | ENSP00000255189.3:p.Leu593= | |
| ENST00000255189.7:c.1777T>C | ENSP00000255189.3:p.Leu593= | |
| ENST00000517853.5:c.*539T>C | ENSP00000428995.1:n.*539T>C | |
| ENST00000518477.5:c.*1011T>C | ENSP00000427834.1:n.*1011T>C | |
| ENST00000523201.1:n.182T>C | ||
| ENST00000523732.1:c.1294T>C | ENSP00000430972.1:p.Leu432= | |
| NM_013391.3:c.1777T>C MANE Select | NP_037523.2:p.Leu593= | |
| NR_104002.1:n.1362T>C | ||
| NR_104003.1:n.914T>C | ||
| XM_006714597.1:c.1777T>C | XP_006714660.1:p.Leu593= | |
| XM_011543354.1:c.1777T>C | XP_011541656.1:p.Leu593= | |
| XM_011543355.1:c.1777T>C | XP_011541657.1:p.Leu593= | |
| XM_006714597.2:c.1777T>C | XP_006714660.1:p.Leu593= | |
| XM_011543355.2:c.1777T>C | XP_011541657.1:p.Leu593= | |
| NR_104002.2:n.1362T>C | ||
| NR_104003.2:n.914T>C | ||
| NR_104002.3:n.1362T>C | ||
| NR_104003.3:n.914T>C |