Linked Data
ClinVar Variation Id:
493504
dbSNP Id:
rs781254508
gnomAD v2:
9-140707551-C-T
gnomAD v3:
9-137813099-C-T
gnomAD v4:
9-137813099-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137813099C>T , CM000671.2:g.137813099C>T | GRCh38 |
| NC_000009.11:g.140707551C>T , CM000671.1:g.140707551C>T | GRCh37 |
| NC_000009.10:g.139827372C>T | NCBI36 |
| NG_011776.1:g.199108C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.2961C>T MANE Select | ENSP00000417980.1:p.Ser987= | |
| ENST00000636027.1:c.2847C>T | ENSP00000489961.1:p.Ser949= | |
| ENST00000637161.1:c.2868C>T | ENSP00000490328.1:p.Ser956= | |
| ENST00000637261.1:c.3001C>T | ENSP00000490815.1:n.3001C>T | |
| ENST00000637891.1:c.855C>T | ENSP00000490907.1:p.Ser285= | |
| ENST00000460843.5:c.2961C>T | ENSP00000417980.1:p.Ser987= | |
| ENST00000462942.3:c.1818C>T | ENSP00000436107.1:p.Ser606= | |
| ENST00000486164.5:c.648C>T | ||
| ENST00000488242.2:n.487C>T | ||
| NM_024757.4:c.2961C>T | NP_079033.4:p.Ser987= | |
| XM_005266105.3:c.2952C>T | XP_005266162.1:p.Ser984= | |
| XM_005266110.1:c.2868C>T | XP_005266167.1:p.Ser956= | |
| XM_006717288.2:c.2943C>T | XP_006717351.1:p.Ser981= | |
| XM_011519021.1:c.2970C>T | XP_011517323.1:p.Ser990= | |
| XM_011519022.1:c.2967C>T | XP_011517324.1:p.Ser989= | |
| XM_011519023.1:c.2949C>T | XP_011517325.1:p.Ser983= | |
| XM_011519024.1:c.2892C>T | XP_011517326.1:p.Ser964= | |
| XM_011519025.1:c.2868C>T | XP_011517327.1:p.Ser956= | |
| XM_011519026.1:c.2826C>T | XP_011517328.1:p.Ser942= | |
| XM_011519029.1:c.1392C>T | XP_011517331.1:p.Ser464= | |
| XM_011519030.1:c.744C>T | XP_011517332.1:p.Ser248= | |
| XM_011519031.1:c.531C>T | XP_011517333.1:p.Ser177= | |
| XM_011519032.1:c.531C>T | XP_011517334.1:p.Ser177= | |
| XM_011519033.1:c.2805C>T | XP_011517335.1:p.Ser935= | |
| NM_001354263.1:c.2940C>T | NP_001341192.1:p.Ser980= | |
| XM_005266105.5:c.2952C>T | XP_005266162.1:p.Ser984= | |
| XM_011519021.3:c.2970C>T | XP_011517323.1:p.Ser990= | |
| XM_011519022.3:c.2967C>T | XP_011517324.1:p.Ser989= | |
| XM_011519023.3:c.2949C>T | XP_011517325.1:p.Ser983= | |
| XM_011519029.3:c.1392C>T | XP_011517331.1:p.Ser464= | |
| XM_011519030.3:c.744C>T | XP_011517332.1:p.Ser248= | |
| XM_017015134.1:c.2946C>T | XP_016870623.1:p.Ser982= | |
| XM_017015136.2:c.2862C>T | XP_016870625.1:p.Ser954= | |
| XM_017015137.1:c.2847C>T | XP_016870626.1:p.Ser949= | |
| XM_017015138.1:c.2847C>T | XP_016870627.1:p.Ser949= | |
| XM_024447674.1:c.2790C>T | XP_024303442.1:p.Ser930= | |
| XM_024447675.1:c.2724C>T | XP_024303443.1:p.Ser908= | |
| XM_024447676.1:c.2085C>T | XP_024303444.1:p.Ser695= | |
| XM_024447677.1:c.2085C>T | XP_024303445.1:p.Ser695= | |
| XM_024447680.1:c.2703C>T | XP_024303448.1:p.Ser901= | |
| NM_024757.5:c.2961C>T MANE Select | NP_079033.4:p.Ser987= | |
| NM_001354263.2:c.2940C>T | NP_001341192.1:p.Ser980= |