Linked Data
ClinVar Variation Id:
195532
dbSNP Id:
rs773020101
ExAC:
9:140707605 C / T
gnomAD v2:
9-140707605-C-T
gnomAD v4:
9-137813153-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137813153C>T , CM000671.2:g.137813153C>T | GRCh38 |
| NC_000009.11:g.140707605C>T , CM000671.1:g.140707605C>T | GRCh37 |
| NC_000009.10:g.139827426C>T | NCBI36 |
| NG_011776.1:g.199162C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.3015C>T MANE Select | ENSP00000417980.1:p.Pro1005= | |
| ENST00000636027.1:c.2901C>T | ENSP00000489961.1:p.Pro967= | |
| ENST00000637161.1:c.2922C>T | ENSP00000490328.1:p.Pro974= | |
| ENST00000637261.1:c.3055C>T | ENSP00000490815.1:n.3055C>T | |
| ENST00000637891.1:c.909C>T | ENSP00000490907.1:p.Pro303= | |
| ENST00000460843.5:c.3015C>T | ENSP00000417980.1:p.Pro1005= | |
| ENST00000462942.3:c.1872C>T | ENSP00000436107.1:p.Pro624= | |
| ENST00000486164.5:c.702C>T | ||
| ENST00000488242.2:n.541C>T | ||
| NM_024757.4:c.3015C>T | NP_079033.4:p.Pro1005= | |
| XM_005266105.3:c.3006C>T | XP_005266162.1:p.Pro1002= | |
| XM_005266110.1:c.2922C>T | XP_005266167.1:p.Pro974= | |
| XM_006717288.2:c.2997C>T | XP_006717351.1:p.Pro999= | |
| XM_011519021.1:c.3024C>T | XP_011517323.1:p.Pro1008= | |
| XM_011519022.1:c.3021C>T | XP_011517324.1:p.Pro1007= | |
| XM_011519023.1:c.3003C>T | XP_011517325.1:p.Pro1001= | |
| XM_011519024.1:c.2946C>T | XP_011517326.1:p.Pro982= | |
| XM_011519025.1:c.2922C>T | XP_011517327.1:p.Pro974= | |
| XM_011519026.1:c.2880C>T | XP_011517328.1:p.Pro960= | |
| XM_011519029.1:c.1446C>T | XP_011517331.1:p.Pro482= | |
| XM_011519030.1:c.798C>T | XP_011517332.1:p.Pro266= | |
| XM_011519031.1:c.585C>T | XP_011517333.1:p.Pro195= | |
| XM_011519032.1:c.585C>T | XP_011517334.1:p.Pro195= | |
| XM_011519033.1:c.2859C>T | XP_011517335.1:p.Pro953= | |
| NM_001354263.1:c.2994C>T | NP_001341192.1:p.Pro998= | |
| XM_005266105.5:c.3006C>T | XP_005266162.1:p.Pro1002= | |
| XM_011519021.3:c.3024C>T | XP_011517323.1:p.Pro1008= | |
| XM_011519022.3:c.3021C>T | XP_011517324.1:p.Pro1007= | |
| XM_011519023.3:c.3003C>T | XP_011517325.1:p.Pro1001= | |
| XM_011519029.3:c.1446C>T | XP_011517331.1:p.Pro482= | |
| XM_011519030.3:c.798C>T | XP_011517332.1:p.Pro266= | |
| XM_017015134.1:c.3000C>T | XP_016870623.1:p.Pro1000= | |
| XM_017015136.2:c.2916C>T | XP_016870625.1:p.Pro972= | |
| XM_017015137.1:c.2901C>T | XP_016870626.1:p.Pro967= | |
| XM_017015138.1:c.2901C>T | XP_016870627.1:p.Pro967= | |
| XM_024447674.1:c.2844C>T | XP_024303442.1:p.Pro948= | |
| XM_024447675.1:c.2778C>T | XP_024303443.1:p.Pro926= | |
| XM_024447676.1:c.2139C>T | XP_024303444.1:p.Pro713= | |
| XM_024447677.1:c.2139C>T | XP_024303445.1:p.Pro713= | |
| XM_024447680.1:c.2757C>T | XP_024303448.1:p.Pro919= | |
| NM_024757.5:c.3015C>T MANE Select | NP_079033.4:p.Pro1005= | |
| NM_001354263.2:c.2994C>T | NP_001341192.1:p.Pro998= |