Linked Data
ClinVar Variation Id:
1613451
ClinVar RCV Id:
RCV002158258
dbSNP Id:
rs2126694174
gnomAD v4:
5-7878121-T-C
MyVariant Identifiers:
chr5:g.7878234T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7878121T>C , CM000667.2:g.7878121T>C | GRCh38 |
| NC_000005.9:g.7878234T>C , CM000667.1:g.7878234T>C | GRCh37 |
| NC_000005.8:g.7931234T>C | NCBI36 |
| NG_008856.1:g.14018T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440940.7:c.579T>C MANE Select | ENSP00000402510.2:p.Leu193= | |
| ENST00000264668.6:c.660T>C | ENSP00000264668.2:p.Leu220= | |
| ENST00000440940.6:c.579T>C | ENSP00000402510.2:p.Leu193= | |
| ENST00000510279.5:c.*248T>C | ENSP00000427200.1:n.*248T>C | |
| ENST00000510525.5:c.604T>C | ||
| ENST00000511461.5:c.492T>C | ||
| ENST00000513439.5:c.*286T>C | ENSP00000426710.1:n.*286T>C | |
| ENST00000514220.5:c.364T>C | ||
| ENST00000514369.5:c.*243T>C | ENSP00000426132.1:n.*243T>C | |
| NM_002454.2:c.579T>C | NP_002445.2:p.Leu193= | |
| NM_024010.2:c.660T>C | NP_076915.2:p.Leu220= | |
| XM_006714474.2:c.660T>C | XP_006714537.1:p.Leu220= | |
| XM_011514043.1:c.660T>C | XP_011512345.1:p.Leu220= | |
| XM_011514044.1:c.579T>C | XP_011512346.1:p.Leu193= | |
| XM_011514045.1:c.660T>C | XP_011512347.1:p.Leu220= | |
| XR_241702.1:n.682T>C | ||
| XR_241703.1:n.675T>C | ||
| XR_925614.1:n.682T>C | ||
| XR_925615.1:n.682T>C | ||
| NM_001364440.1:c.579T>C | NP_001351369.1:p.Leu193= | |
| NM_001364441.1:c.579T>C | NP_001351370.1:p.Leu193= | |
| NM_001364442.1:c.579T>C | NP_001351371.1:p.Leu193= | |
| NM_024010.3:c.579T>C | NP_076915.3:p.Leu193= | |
| NR_134480.1:n.702T>C | ||
| NR_134481.1:n.716T>C | ||
| NR_134482.1:n.562T>C | ||
| NR_157168.1:n.632T>C | ||
| NR_157169.1:n.492T>C | ||
| NR_157170.1:n.518T>C | ||
| NR_157171.1:n.492T>C | ||
| NR_157172.1:n.518T>C | ||
| NR_157173.1:n.646T>C | ||
| NR_157174.1:n.518T>C | ||
| NR_157175.1:n.672T>C | ||
| NR_157176.1:n.672T>C | ||
| NR_157177.1:n.667T>C | ||
| NR_157178.1:n.672T>C | ||
| XM_024446063.1:c.624T>C | XP_024301831.1:p.Leu208= | |
| XM_024446064.1:c.579T>C | XP_024301832.1:p.Leu193= | |
| XR_001742071.1:n.682T>C | ||
| XR_001742072.1:n.682T>C | ||
| XR_001742074.1:n.682T>C | ||
| XR_001742075.1:n.682T>C | ||
| XR_001742076.1:n.682T>C | ||
| XR_001742077.1:n.682T>C | ||
| NM_001364440.2:c.579T>C | NP_001351369.1:p.Leu193= | |
| NM_001364441.2:c.579T>C | NP_001351370.1:p.Leu193= | |
| NM_001364442.2:c.579T>C | NP_001351371.1:p.Leu193= | |
| NM_002454.3:c.579T>C MANE Select | NP_002445.2:p.Leu193= | |
| NM_024010.4:c.579T>C | NP_076915.3:p.Leu193= | |
| NR_134480.2:n.658T>C | ||
| NR_134481.2:n.672T>C | ||
| NR_134482.2:n.518T>C | ||
| NR_157168.2:n.632T>C | ||
| NR_157169.2:n.492T>C | ||
| NR_157170.2:n.518T>C | ||
| NR_157171.2:n.492T>C | ||
| NR_157172.2:n.518T>C | ||
| NR_157173.2:n.646T>C | ||
| NR_157174.2:n.518T>C | ||
| NR_157175.2:n.672T>C | ||
| NR_157176.2:n.672T>C | ||
| NR_157177.2:n.667T>C | ||
| NR_157178.2:n.672T>C |