Linked Data
ClinVar Variation Id:
1393693
dbSNP Id:
rs980128101
gnomAD v2:
20-62038499-G-T
gnomAD v3:
20-63407146-G-T
gnomAD v4:
20-63407146-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63407146G>T , CM000682.2:g.63407146G>T | GRCh38 |
| NC_000020.10:g.62038499G>T , CM000682.1:g.62038499G>T | GRCh37 |
| NC_000020.9:g.61508943G>T | NCBI36 |
| NG_009004.1:g.70495C>A | |
| NG_009004.2:g.70495C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2171C>A | ENSP00000516702.1:p.Ala724Asp | |
| ENST00000359125.7:c.2117C>A MANE Select | ENSP00000352035.2:p.Ala706Asp | |
| ENST00000637193.1:c.1514C>A | ENSP00000490734.1:p.Ala505Asp | |
| ENST00000344462.8:c.2024C>A | ENSP00000339611.4:p.Ala675Asp | |
| ENST00000357249.6:c.1685C>A | ENSP00000349789.3:p.Ala562Asp | |
| ENST00000359125.6:c.2117C>A | ENSP00000352035.2:p.Ala706Asp | |
| ENST00000360480.7:c.2033C>A | ENSP00000353668.3:p.Ala678Asp | |
| ENST00000370224.5:c.2141C>A | ENSP00000359244.2:p.Ala714Asp | |
| ENST00000625514.2:c.2105C>A | ENSP00000486040.1:p.Ala702Asp | |
| ENST00000626839.2:c.2063C>A | ENSP00000486706.1:p.Ala688Asp | |
| ENST00000629241.2:c.2033C>A | ENSP00000487142.1:p.Ala678Asp | |
| ENST00000629676.2:c.1680-6303C>A | ENSP00000486194.1:n.1680-6303C>A | |
| NM_004518.4:c.2033C>A | NP_004509.2:p.Ala678Asp | |
| NM_172106.1:c.2063C>A | NP_742104.1:p.Ala688Asp | |
| NM_172107.2:c.2117C>A | NP_742105.1:p.Ala706Asp | |
| NM_172108.3:c.2024C>A | NP_742106.1:p.Ala675Asp | |
| XM_006723787.1:c.2159C>A | XP_006723850.1:p.Ala720Asp | |
| XM_011528807.1:c.2225C>A | XP_011527109.1:p.Ala742Asp | |
| XM_011528808.1:c.2222C>A | XP_011527110.1:p.Ala741Asp | |
| XM_011528809.1:c.2195C>A | XP_011527111.1:p.Ala732Asp | |
| XM_011528810.1:c.2171C>A | XP_011527112.1:p.Ala724Asp | |
| XM_011528811.1:c.2141C>A | XP_011527113.1:p.Ala714Asp | |
| XM_011528812.1:c.2114C>A | XP_011527114.1:p.Ala705Asp | |
| XM_011528813.1:c.2099C>A | XP_011527115.1:p.Ala700Asp | |
| XM_011528814.1:c.1706C>A | XP_011527116.1:p.Ala569Asp | |
| NM_004518.5:c.2033C>A | NP_004509.2:p.Ala678Asp | |
| NM_172106.2:c.2063C>A | NP_742104.1:p.Ala688Asp | |
| NM_172107.3:c.2117C>A | NP_742105.1:p.Ala706Asp | |
| NM_172108.4:c.2024C>A | NP_742106.1:p.Ala675Asp | |
| XM_011528810.2:c.2171C>A | XP_011527112.1:p.Ala724Asp | |
| XM_011528811.2:c.2141C>A | XP_011527113.1:p.Ala714Asp | |
| XM_017027841.2:c.2168C>A | XP_016883330.1:p.Ala723Asp | |
| XM_017027842.2:c.2105C>A | XP_016883331.1:p.Ala702Asp | |
| XM_017027843.1:c.2102C>A | XP_016883332.1:p.Ala701Asp | |
| XM_017027844.2:c.2060C>A | XP_016883333.1:p.Ala687Asp | |
| XM_017027845.1:c.1133C>A | XP_016883334.1:p.Ala378Asp | |
| NM_004518.6:c.2033C>A | NP_004509.2:p.Ala678Asp | |
| NM_172106.3:c.2063C>A | NP_742104.1:p.Ala688Asp | |
| NM_172107.4:c.2117C>A MANE Select | NP_742105.1:p.Ala706Asp | |
| NM_172108.5:c.2024C>A | NP_742106.1:p.Ala675Asp | |
| NM_001382235.1:c.2171C>A | NP_001369164.1:p.Ala724Asp |