Linked Data
ClinVar Variation Id:
44111
ClinVar RCV Id:
RCV001521165
dbSNP Id:
rs10823829
ExAC:
10:73466709 T / C
gnomAD v2:
10-73466709-T-C
gnomAD v3:
10-71706952-T-C
gnomAD v4:
10-71706952-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71706952T>C , CM000672.2:g.71706952T>C | GRCh38 |
| NC_000010.10:g.73466709T>C , CM000672.1:g.73466709T>C | GRCh37 |
| NC_000010.9:g.73136715T>C | NCBI36 |
| NG_008835.1:g.315006T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224721.12:c.3009T>C MANE Select | ENSP00000224721.9:p.Ser1003= | |
| ENST00000398809.9:c.3009T>C | ENSP00000381789.5:p.Ser1003= | |
| ENST00000442677.4:c.3009T>C | ENSP00000388894.3:p.Ser1003= | |
| ENST00000466757.8:c.2440T>C | ||
| ENST00000224721.10:c.3024T>C | ENSP00000224721.8:p.Ser1008= | |
| ENST00000299366.11:c.3009T>C | ENSP00000299366.8:p.Ser1003= | |
| ENST00000398809.8:c.3009T>C | ENSP00000381789.5:p.Ser1003= | |
| ENST00000442677.3:c.1784T>C | ||
| ENST00000466757.7:c.2440T>C | ||
| ENST00000616684.4:c.3009T>C | ENSP00000482036.2:p.Ser1003= | |
| ENST00000622827.4:c.3009T>C | ENSP00000483211.1:p.Ser1003= | |
| NM_001171930.1:c.3009T>C | NP_001165401.1:p.Ser1003= | |
| NM_001171931.1:c.3009T>C | NP_001165402.1:p.Ser1003= | |
| NM_022124.5:c.3009T>C | NP_071407.4:p.Ser1003= | |
| XM_006717940.2:c.3204T>C | XP_006718003.1:p.Ser1068= | |
| XM_006717942.2:c.3138T>C | XP_006718005.1:p.Ser1046= | |
| XM_011540039.1:c.3204T>C | XP_011538341.1:p.Ser1068= | |
| XM_011540040.1:c.3198T>C | XP_011538342.1:p.Ser1066= | |
| XM_011540041.1:c.3144T>C | XP_011538343.1:p.Ser1048= | |
| XM_011540042.1:c.3204T>C | XP_011538344.1:p.Ser1068= | |
| XM_011540043.1:c.3204T>C | XP_011538345.1:p.Ser1068= | |
| XM_011540044.1:c.3069T>C | XP_011538346.1:p.Ser1023= | |
| XM_011540045.1:c.3204T>C | XP_011538347.1:p.Ser1068= | |
| XM_011540046.1:c.2664T>C | XP_011538348.1:p.Ser888= | |
| XM_011540047.1:c.2022T>C | XP_011538349.1:p.Ser674= | |
| XM_011540048.1:c.3204T>C | XP_011538350.1:p.Ser1068= | |
| XM_011540049.1:c.3204T>C | XP_011538351.1:p.Ser1068= | |
| XM_011540050.1:c.3204T>C | XP_011538352.1:p.Ser1068= | |
| XM_011540051.1:c.3204T>C | XP_011538353.1:p.Ser1068= | |
| XM_011540053.1:c.3204T>C | XP_011538355.1:p.Ser1068= | |
| XM_011540054.1:c.3144T>C | XP_011538356.1:p.Ser1048= | |
| XR_945796.1:n.3447T>C | ||
| XR_946052.1:n.82+2054A>G | ||
| NM_001171930.2:c.3009T>C | NP_001165401.1:p.Ser1003= | |
| NM_001171931.2:c.3009T>C | NP_001165402.1:p.Ser1003= | |
| NM_022124.6:c.3009T>C MANE Select | NP_071407.4:p.Ser1003= |