Linked Data
ClinVar Variation Id:
525517
dbSNP Id:
rs144786630
ExAC:
17:72285863 A / C
gnomAD v2:
17-72285863-A-C
gnomAD v3:
17-74289724-A-C
gnomAD v4:
17-74289724-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74289724A>C , CM000679.2:g.74289724A>C | GRCh38 |
| NC_000017.10:g.72285863A>C , CM000679.1:g.72285863A>C | GRCh37 |
| NC_000017.9:g.69797458A>C | NCBI36 |
| NG_016865.1:g.20478A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311014.11:c.598A>C MANE Select | ENSP00000308312.6:p.Ile200Leu | |
| ENST00000311014.10:c.598A>C | ENSP00000308312.6:p.Ile200Leu | |
| ENST00000446837.2:c.598A>C | ENSP00000400252.2:p.Ile200Leu | |
| ENST00000579055.5:c.476A>C | ENSP00000462767.1:p.His159Pro | |
| ENST00000579490.5:c.769A>C | ENSP00000464197.1:p.Ile257Leu | |
| ENST00000582036.5:c.598A>C | ENSP00000461950.1:p.Ile200Leu | |
| NM_001172810.1:c.598A>C | NP_001166281.1:p.Ile200Leu | |
| NM_023036.4:c.598A>C | NP_075462.3:p.Ile200Leu | |
| XM_011525125.1:c.598A>C | XP_011523427.1:p.Ile200Leu | |
| XR_429915.2:n.720A>C | ||
| XR_429916.2:n.720A>C | ||
| XR_934518.1:n.722A>C | ||
| XR_934519.1:n.719A>C | ||
| XR_934520.1:n.795A>C | ||
| XR_934521.1:n.707A>C | ||
| XR_934522.1:n.695A>C | ||
| XR_934523.1:n.704A>C | ||
| XR_934524.1:n.722A>C | ||
| XR_934525.1:n.722A>C | ||
| XR_934526.1:n.722A>C | ||
| XR_934527.1:n.720A>C | ||
| XR_934528.1:n.720A>C | ||
| XR_934529.1:n.601A>C | ||
| XR_934530.1:n.674A>C | ||
| XR_934531.1:n.600A>C | ||
| NM_001172810.2:c.598A>C | NP_001166281.1:p.Ile200Leu | |
| NM_001353167.1:c.598A>C | NP_001340096.1:p.Ile200Leu | |
| NM_023036.5:c.598A>C | NP_075462.3:p.Ile200Leu | |
| NR_148379.1:n.623A>C | ||
| XM_011525125.2:c.598A>C | XP_011523427.1:p.Ile200Leu | |
| XM_024450874.1:c.598A>C | XP_024306642.1:p.Ile200Leu | |
| XM_024450875.1:c.598A>C | XP_024306643.1:p.Ile200Leu | |
| XM_024450876.1:c.598A>C | XP_024306644.1:p.Ile200Leu | |
| XM_024450877.1:c.598A>C | XP_024306645.1:p.Ile200Leu | |
| XM_024450878.1:c.598A>C | XP_024306646.1:p.Ile200Leu | |
| XM_024450879.1:c.598A>C | XP_024306647.1:p.Ile200Leu | |
| XM_024450880.1:c.598A>C | XP_024306648.1:p.Ile200Leu | |
| XM_024450881.1:c.598A>C | XP_024306649.1:p.Ile200Leu | |
| XM_024450882.1:c.598A>C | XP_024306650.1:p.Ile200Leu | |
| XM_024450883.1:c.598A>C | XP_024306651.1:p.Ile200Leu | |
| XM_024450884.1:c.598A>C | XP_024306652.1:p.Ile200Leu | |
| XM_024450885.1:c.169A>C | XP_024306653.1:p.Ile57Leu | |
| XM_024450886.1:c.169A>C | XP_024306654.1:p.Ile57Leu | |
| NM_023036.6:c.598A>C MANE Select | NP_075462.3:p.Ile200Leu | |
| NM_001172810.3:c.598A>C | NP_001166281.1:p.Ile200Leu | |
| NM_001353167.2:c.598A>C | NP_001340096.1:p.Ile200Leu | |
| NR_148379.2:n.599A>C |