Linked Data
ClinVar Variation Id:
699691
dbSNP Id:
rs374526673
ExAC:
20:62038207 G / A
gnomAD v2:
20-62038207-G-A
gnomAD v3:
20-63406854-G-A
gnomAD v4:
20-63406854-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406854G>A , CM000682.2:g.63406854G>A | GRCh38 |
| NC_000020.10:g.62038207G>A , CM000682.1:g.62038207G>A | GRCh37 |
| NC_000020.9:g.61508651G>A | NCBI36 |
| NG_009004.1:g.70787C>T | |
| NG_009004.2:g.70787C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2463C>T | ENSP00000516702.1:p.Ser821= | |
| ENST00000359125.7:c.2409C>T MANE Select | ENSP00000352035.2:p.Ser803= | |
| ENST00000637193.1:c.1806C>T | ENSP00000490734.1:p.Ser602= | |
| ENST00000344462.8:c.2316C>T | ENSP00000339611.4:p.Ser772= | |
| ENST00000357249.6:c.1977C>T | ENSP00000349789.3:p.Ser659= | |
| ENST00000359125.6:c.2409C>T | ENSP00000352035.2:p.Ser803= | |
| ENST00000360480.7:c.2325C>T | ENSP00000353668.3:p.Ser775= | |
| ENST00000370224.5:c.2241+192C>T | ENSP00000359244.2:n.2241+192C>T | |
| ENST00000625514.2:c.2205+192C>T | ENSP00000486040.1:n.2205+192C>T | |
| ENST00000626839.2:c.2355C>T | ENSP00000486706.1:p.Ser785= | |
| ENST00000629241.2:c.2133+192C>T | ENSP00000487142.1:n.2133+192C>T | |
| ENST00000629676.2:c.1680-6011C>T | ENSP00000486194.1:n.1680-6011C>T | |
| NM_004518.4:c.2325C>T | NP_004509.2:p.Ser775= | |
| NM_172106.1:c.2355C>T | NP_742104.1:p.Ser785= | |
| NM_172107.2:c.2409C>T | NP_742105.1:p.Ser803= | |
| NM_172108.3:c.2316C>T | NP_742106.1:p.Ser772= | |
| XM_006723787.1:c.2451C>T | XP_006723850.1:p.Ser817= | |
| XM_011528807.1:c.2517C>T | XP_011527109.1:p.Ser839= | |
| XM_011528808.1:c.2514C>T | XP_011527110.1:p.Ser838= | |
| XM_011528809.1:c.2487C>T | XP_011527111.1:p.Ser829= | |
| XM_011528810.1:c.2463C>T | XP_011527112.1:p.Ser821= | |
| XM_011528811.1:c.2433C>T | XP_011527113.1:p.Ser811= | |
| XM_011528812.1:c.2406C>T | XP_011527114.1:p.Ser802= | |
| XM_011528813.1:c.2391C>T | XP_011527115.1:p.Ser797= | |
| XM_011528814.1:c.1998C>T | XP_011527116.1:p.Ser666= | |
| NM_004518.5:c.2325C>T | NP_004509.2:p.Ser775= | |
| NM_172106.2:c.2355C>T | NP_742104.1:p.Ser785= | |
| NM_172107.3:c.2409C>T | NP_742105.1:p.Ser803= | |
| NM_172108.4:c.2316C>T | NP_742106.1:p.Ser772= | |
| XM_011528810.2:c.2463C>T | XP_011527112.1:p.Ser821= | |
| XM_011528811.2:c.2433C>T | XP_011527113.1:p.Ser811= | |
| XM_017027841.2:c.2460C>T | XP_016883330.1:p.Ser820= | |
| XM_017027842.2:c.2397C>T | XP_016883331.1:p.Ser799= | |
| XM_017027843.1:c.2394C>T | XP_016883332.1:p.Ser798= | |
| XM_017027844.2:c.2352C>T | XP_016883333.1:p.Ser784= | |
| XM_017027845.1:c.1425C>T | XP_016883334.1:p.Ser475= | |
| NM_004518.6:c.2325C>T | NP_004509.2:p.Ser775= | |
| NM_172106.3:c.2355C>T | NP_742104.1:p.Ser785= | |
| NM_172107.4:c.2409C>T MANE Select | NP_742105.1:p.Ser803= | |
| NM_172108.5:c.2316C>T | NP_742106.1:p.Ser772= | |
| NM_001382235.1:c.2463C>T | NP_001369164.1:p.Ser821= |