Linked Data
ClinVar Variation Id:
163563
dbSNP Id:
rs61744480
ExAC:
5:89925039 A / C
gnomAD v2:
5-89925039-A-C
gnomAD v3:
5-90629222-A-C
gnomAD v4:
5-90629222-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90629222A>C , CM000667.2:g.90629222A>C | GRCh38 |
| NC_000005.9:g.89925039A>C , CM000667.1:g.89925039A>C | GRCh37 |
| NC_000005.8:g.89960795A>C | NCBI36 |
| NG_007083.1:g.75423A>C | |
| NG_007083.2:g.104879A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.1522A>C MANE Select | ENSP00000384582.2:p.Ile508Leu | |
| ENST00000504142.2:n.288A>C | ||
| ENST00000640109.1:n.1618A>C | ||
| ENST00000405460.6:c.1522A>C | ENSP00000384582.2:p.Ile508Leu | |
| ENST00000504142.1:c.287A>C | ||
| NM_032119.3:c.1522A>C | NP_115495.3:p.Ile508Leu | |
| NR_003149.1:n.1618A>C | ||
| XM_011543675.1:c.1522A>C | XP_011541977.1:p.Ile508Leu | |
| XM_011543676.1:c.1522A>C | XP_011541978.1:p.Ile508Leu | |
| XM_011543678.1:c.1522A>C | XP_011541980.1:p.Ile508Leu | |
| XM_011543679.1:c.1522A>C | XP_011541981.1:p.Ile508Leu | |
| NM_032119.4:c.1522A>C MANE Select | NP_115495.3:p.Ile508Leu | |
| XM_017009963.2:c.1522A>C | XP_016865452.1:p.Ile508Leu | |
| XM_017009964.2:c.1522A>C | XP_016865453.1:p.Ile508Leu | |
| XM_017009965.1:c.1519A>C | XP_016865454.1:p.Ile507Leu | |
| XM_017009966.2:c.1522A>C | XP_016865455.1:p.Ile508Leu | |
| XM_017009967.1:c.1426A>C | XP_016865456.1:p.Ile476Leu | |
| XM_017009968.2:c.1522A>C | XP_016865457.1:p.Ile508Leu | |
| XM_017009969.2:c.1522A>C | XP_016865458.1:p.Ile508Leu | |
| XM_017009970.2:c.1522A>C | XP_016865459.1:p.Ile508Leu | |
| XM_017009971.2:c.1522A>C | XP_016865460.1:p.Ile508Leu | |
| XM_017009974.2:c.1522A>C | XP_016865463.1:p.Ile508Leu | |
| NR_003149.2:n.1621A>C |