Linked Data
ClinVar Variation Id:
46036
dbSNP Id:
rs114819374
ExAC:
10:73562802 T / C
gnomAD v2:
10-73562802-T-C
gnomAD v3:
10-71803045-T-C
gnomAD v4:
10-71803045-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71803045T>C , CM000672.2:g.71803045T>C | GRCh38 |
| NC_000010.10:g.73562802T>C , CM000672.1:g.73562802T>C | GRCh37 |
| NC_000010.9:g.73232808T>C | NCBI36 |
| NG_008835.1:g.411099T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.7630T>C MANE Select | ENSP00000224721.9:p.Leu2544= | |
| ENST00000642965.1:c.1563T>C | ENSP00000495222.1:n.1563T>C | |
| ENST00000647092.1:c.1227T>C | ENSP00000495176.1:n.1227T>C | |
| ENST00000224721.10:c.7645T>C | ENSP00000224721.8:p.Leu2549= | |
| ENST00000398788.4:c.910T>C | ENSP00000381768.3:p.Leu304= | |
| ENST00000475158.1:n.1166T>C | ||
| ENST00000619887.4:c.910T>C | ENSP00000478374.1:p.Leu304= | |
| ENST00000622827.4:c.7630T>C | ENSP00000483211.1:p.Leu2544= | |
| NM_001171933.1:c.910T>C | NP_001165404.1:p.Leu304= | |
| NM_001171934.1:c.910T>C | NP_001165405.1:p.Leu304= | |
| NM_022124.5:c.7630T>C | NP_071407.4:p.Leu2544= | |
| XM_006717940.2:c.7825T>C | XP_006718003.1:p.Leu2609= | |
| XM_006717942.2:c.7759T>C | XP_006718005.1:p.Leu2587= | |
| XM_011540039.1:c.7822T>C | XP_011538341.1:p.Leu2608= | |
| XM_011540040.1:c.7819T>C | XP_011538342.1:p.Leu2607= | |
| XM_011540041.1:c.7765T>C | XP_011538343.1:p.Leu2589= | |
| XM_011540042.1:c.7735T>C | XP_011538344.1:p.Leu2579= | |
| XM_011540043.1:c.7825T>C | XP_011538345.1:p.Leu2609= | |
| XM_011540044.1:c.7690T>C | XP_011538346.1:p.Leu2564= | |
| XM_011540045.1:c.7825T>C | XP_011538347.1:p.Leu2609= | |
| XM_011540046.1:c.7285T>C | XP_011538348.1:p.Leu2429= | |
| XM_011540047.1:c.6643T>C | XP_011538349.1:p.Leu2215= | |
| XM_011540052.1:c.4153T>C | XP_011538354.1:p.Leu1385= | |
| NM_022124.6:c.7630T>C MANE Select | NP_071407.4:p.Leu2544= |