Linked Data
ClinVar Variation Id:
227221
ClinVar RCV Id:
RCV000221903
RCV000309502
RCV000403602
RCV001245326
RCV001275944
RCV002519603
RCV004529365
dbSNP Id:
rs199894395
ExAC:
10:73462429 C / T
gnomAD v2:
10-73462429-C-T
gnomAD v3:
10-71702672-C-T
gnomAD v4:
10-71702672-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71702672C>T , CM000672.2:g.71702672C>T | GRCh38 |
| NC_000010.10:g.73462429C>T , CM000672.1:g.73462429C>T | GRCh37 |
| NC_000010.9:g.73132435C>T | NCBI36 |
| NG_008835.1:g.310726C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.2711C>T MANE Select | ENSP00000224721.9:p.Pro904Leu | |
| ENST00000398809.9:c.2711C>T | ENSP00000381789.5:p.Pro904Leu | |
| ENST00000442677.4:c.2711C>T | ENSP00000388894.3:p.Pro904Leu | |
| ENST00000466757.8:c.2142C>T | ||
| ENST00000224721.10:c.2726C>T | ENSP00000224721.8:p.Pro909Leu | |
| ENST00000299366.11:c.2711C>T | ENSP00000299366.8:p.Pro904Leu | |
| ENST00000398809.8:c.2711C>T | ENSP00000381789.5:p.Pro904Leu | |
| ENST00000442677.3:c.1486C>T | ||
| ENST00000466757.7:c.2142C>T | ||
| ENST00000616684.4:c.2711C>T | ENSP00000482036.2:p.Pro904Leu | |
| ENST00000622827.4:c.2711C>T | ENSP00000483211.1:p.Pro904Leu | |
| NM_001171930.1:c.2711C>T | NP_001165401.1:p.Pro904Leu | |
| NM_001171931.1:c.2711C>T | NP_001165402.1:p.Pro904Leu | |
| NM_022124.5:c.2711C>T | NP_071407.4:p.Pro904Leu | |
| XM_006717940.2:c.2906C>T | XP_006718003.1:p.Pro969Leu | |
| XM_006717942.2:c.2840C>T | XP_006718005.1:p.Pro947Leu | |
| XM_011540039.1:c.2906C>T | XP_011538341.1:p.Pro969Leu | |
| XM_011540040.1:c.2900C>T | XP_011538342.1:p.Pro967Leu | |
| XM_011540041.1:c.2846C>T | XP_011538343.1:p.Pro949Leu | |
| XM_011540042.1:c.2906C>T | XP_011538344.1:p.Pro969Leu | |
| XM_011540043.1:c.2906C>T | XP_011538345.1:p.Pro969Leu | |
| XM_011540044.1:c.2771C>T | XP_011538346.1:p.Pro924Leu | |
| XM_011540045.1:c.2906C>T | XP_011538347.1:p.Pro969Leu | |
| XM_011540046.1:c.2366C>T | XP_011538348.1:p.Pro789Leu | |
| XM_011540047.1:c.1724C>T | XP_011538349.1:p.Pro575Leu | |
| XM_011540048.1:c.2906C>T | XP_011538350.1:p.Pro969Leu | |
| XM_011540049.1:c.2906C>T | XP_011538351.1:p.Pro969Leu | |
| XM_011540050.1:c.2906C>T | XP_011538352.1:p.Pro969Leu | |
| XM_011540051.1:c.2906C>T | XP_011538353.1:p.Pro969Leu | |
| XM_011540053.1:c.2906C>T | XP_011538355.1:p.Pro969Leu | |
| XM_011540054.1:c.2846C>T | XP_011538356.1:p.Pro949Leu | |
| XR_945796.1:n.3149C>T | ||
| NM_001171930.2:c.2711C>T | NP_001165401.1:p.Pro904Leu | |
| NM_001171931.2:c.2711C>T | NP_001165402.1:p.Pro904Leu | |
| NM_022124.6:c.2711C>T MANE Select | NP_071407.4:p.Pro904Leu |