Linked Data
ClinVar Variation Id:
3017334
ClinVar RCV Id:
RCV003871453
dbSNP Id:
rs765530344
ExAC:
5:7878180 G / A
gnomAD v2:
5-7878180-G-A
gnomAD v3:
5-7878067-G-A
gnomAD v4:
5-7878067-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7878067G>A , CM000667.2:g.7878067G>A | GRCh38 |
| NC_000005.9:g.7878180G>A , CM000667.1:g.7878180G>A | GRCh37 |
| NC_000005.8:g.7931180G>A | NCBI36 |
| NG_008856.1:g.13964G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440940.7:c.525G>A MANE Select | ENSP00000402510.2:p.Ser175= | |
| ENST00000264668.6:c.606G>A | ENSP00000264668.2:p.Ser202= | |
| ENST00000440940.6:c.525G>A | ENSP00000402510.2:p.Ser175= | |
| ENST00000508890.1:n.338G>A | ||
| ENST00000510279.5:c.*194G>A | ENSP00000427200.1:n.*194G>A | |
| ENST00000510525.5:c.550G>A | ||
| ENST00000511461.5:c.438G>A | ||
| ENST00000513439.5:c.*232G>A | ENSP00000426710.1:n.*232G>A | |
| ENST00000514220.5:c.310G>A | ||
| ENST00000514369.5:c.*189G>A | ENSP00000426132.1:n.*189G>A | |
| NM_002454.2:c.525G>A | NP_002445.2:p.Ser175= | |
| NM_024010.2:c.606G>A | NP_076915.2:p.Ser202= | |
| XM_006714474.2:c.606G>A | XP_006714537.1:p.Ser202= | |
| XM_011514043.1:c.606G>A | XP_011512345.1:p.Ser202= | |
| XM_011514044.1:c.525G>A | XP_011512346.1:p.Ser175= | |
| XM_011514045.1:c.606G>A | XP_011512347.1:p.Ser202= | |
| XR_241702.1:n.628G>A | ||
| XR_241703.1:n.621G>A | ||
| XR_925614.1:n.628G>A | ||
| XR_925615.1:n.628G>A | ||
| NM_001364440.1:c.525G>A | NP_001351369.1:p.Ser175= | |
| NM_001364441.1:c.525G>A | NP_001351370.1:p.Ser175= | |
| NM_001364442.1:c.525G>A | NP_001351371.1:p.Ser175= | |
| NM_024010.3:c.525G>A | NP_076915.3:p.Ser175= | |
| NR_134480.1:n.648G>A | ||
| NR_134481.1:n.662G>A | ||
| NR_134482.1:n.508G>A | ||
| NR_157168.1:n.578G>A | ||
| NR_157169.1:n.438G>A | ||
| NR_157170.1:n.464G>A | ||
| NR_157171.1:n.438G>A | ||
| NR_157172.1:n.464G>A | ||
| NR_157173.1:n.592G>A | ||
| NR_157174.1:n.464G>A | ||
| NR_157175.1:n.618G>A | ||
| NR_157176.1:n.618G>A | ||
| NR_157177.1:n.613G>A | ||
| NR_157178.1:n.618G>A | ||
| XM_024446063.1:c.570G>A | XP_024301831.1:p.Ser190= | |
| XM_024446064.1:c.525G>A | XP_024301832.1:p.Ser175= | |
| XR_001742071.1:n.628G>A | ||
| XR_001742072.1:n.628G>A | ||
| XR_001742074.1:n.628G>A | ||
| XR_001742075.1:n.628G>A | ||
| XR_001742076.1:n.628G>A | ||
| XR_001742077.1:n.628G>A | ||
| NM_001364440.2:c.525G>A | NP_001351369.1:p.Ser175= | |
| NM_001364441.2:c.525G>A | NP_001351370.1:p.Ser175= | |
| NM_001364442.2:c.525G>A | NP_001351371.1:p.Ser175= | |
| NM_002454.3:c.525G>A MANE Select | NP_002445.2:p.Ser175= | |
| NM_024010.4:c.525G>A | NP_076915.3:p.Ser175= | |
| NR_134480.2:n.604G>A | ||
| NR_134481.2:n.618G>A | ||
| NR_134482.2:n.464G>A | ||
| NR_157168.2:n.578G>A | ||
| NR_157169.2:n.438G>A | ||
| NR_157170.2:n.464G>A | ||
| NR_157171.2:n.438G>A | ||
| NR_157172.2:n.464G>A | ||
| NR_157173.2:n.592G>A | ||
| NR_157174.2:n.464G>A | ||
| NR_157175.2:n.618G>A | ||
| NR_157176.2:n.618G>A | ||
| NR_157177.2:n.613G>A | ||
| NR_157178.2:n.618G>A |