Linked Data
ClinVar Variation Id:
194270
dbSNP Id:
rs147523309
ExAC:
9:140672354 C / T
gnomAD v2:
9-140672354-C-T
gnomAD v3:
9-137777902-C-T
gnomAD v4:
9-137777902-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137777902C>T , CM000671.2:g.137777902C>T | GRCh38 |
| NC_000009.11:g.140672354C>T , CM000671.1:g.140672354C>T | GRCh37 |
| NC_000009.10:g.139792175C>T | NCBI36 |
| NG_011776.1:g.163911C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.2039C>T MANE Select | ENSP00000417980.1:p.Ser680Leu | |
| ENST00000636027.1:c.1925C>T | ENSP00000489961.1:p.Ser642Leu | |
| ENST00000637161.1:c.1946C>T | ENSP00000490328.1:p.Ser649Leu | |
| ENST00000637261.1:c.2079C>T | ENSP00000490815.1:n.2079C>T | |
| ENST00000638071.1:c.1666C>T | ||
| ENST00000371394.6:c.*1774C>T | ENSP00000485945.1:n.*1774C>T | |
| ENST00000460843.5:c.2039C>T | ENSP00000417980.1:p.Ser680Leu | |
| ENST00000462484.5:c.2039C>T | ENSP00000417328.1:p.Ser680Leu | |
| ENST00000462942.3:c.896C>T | ENSP00000436107.1:p.Ser299Leu | |
| ENST00000626603.1:n.1061-514G>A | ||
| NM_001145527.1:c.2039C>T | NP_001138999.1:p.Ser680Leu | |
| NM_024757.4:c.2039C>T | NP_079033.4:p.Ser680Leu | |
| XM_005266105.3:c.2030C>T | XP_005266162.1:p.Ser677Leu | |
| XM_005266110.1:c.1946C>T | XP_005266167.1:p.Ser649Leu | |
| XM_006717288.2:c.2021C>T | XP_006717351.1:p.Ser674Leu | |
| XM_011519021.1:c.2048C>T | XP_011517323.1:p.Ser683Leu | |
| XM_011519022.1:c.2045C>T | XP_011517324.1:p.Ser682Leu | |
| XM_011519023.1:c.2027C>T | XP_011517325.1:p.Ser676Leu | |
| XM_011519024.1:c.1970C>T | XP_011517326.1:p.Ser657Leu | |
| XM_011519025.1:c.1946C>T | XP_011517327.1:p.Ser649Leu | |
| XM_011519026.1:c.1904C>T | XP_011517328.1:p.Ser635Leu | |
| XM_011519027.1:c.2048C>T | XP_011517329.1:p.Ser683Leu | |
| XM_011519028.1:c.2048C>T | XP_011517330.1:p.Ser683Leu | |
| XM_011519029.1:c.470C>T | XP_011517331.1:p.Ser157Leu | |
| XM_011519033.1:c.1883C>T | XP_011517335.1:p.Ser628Leu | |
| NM_001354259.1:c.1946C>T | NP_001341188.1:p.Ser649Leu | |
| NM_001354263.1:c.2018C>T | NP_001341192.1:p.Ser673Leu | |
| XM_005266105.5:c.2030C>T | XP_005266162.1:p.Ser677Leu | |
| XM_011519021.3:c.2048C>T | XP_011517323.1:p.Ser683Leu | |
| XM_011519022.3:c.2045C>T | XP_011517324.1:p.Ser682Leu | |
| XM_011519023.3:c.2027C>T | XP_011517325.1:p.Ser676Leu | |
| XM_011519029.3:c.470C>T | XP_011517331.1:p.Ser157Leu | |
| XM_017015134.1:c.2024C>T | XP_016870623.1:p.Ser675Leu | |
| XM_017015136.2:c.1940C>T | XP_016870625.1:p.Ser647Leu | |
| XM_017015137.1:c.1925C>T | XP_016870626.1:p.Ser642Leu | |
| XM_017015138.1:c.1925C>T | XP_016870627.1:p.Ser642Leu | |
| XM_024447674.1:c.1868C>T | XP_024303442.1:p.Ser623Leu | |
| XM_024447675.1:c.1802C>T | XP_024303443.1:p.Ser601Leu | |
| XM_024447676.1:c.1163C>T | XP_024303444.1:p.Ser388Leu | |
| XM_024447677.1:c.1163C>T | XP_024303445.1:p.Ser388Leu | |
| XM_024447678.1:c.1946C>T | XP_024303446.1:p.Ser649Leu | |
| XM_024447679.1:c.1946C>T | XP_024303447.1:p.Ser649Leu | |
| XM_024447680.1:c.1781C>T | XP_024303448.1:p.Ser594Leu | |
| NM_024757.5:c.2039C>T MANE Select | NP_079033.4:p.Ser680Leu | |
| NM_001145527.2:c.2039C>T | NP_001138999.1:p.Ser680Leu | |
| NM_001354259.2:c.1946C>T | NP_001341188.1:p.Ser649Leu | |
| NM_001354263.2:c.2018C>T | NP_001341192.1:p.Ser673Leu |