Linked Data
dbSNP Id:
rs1419744302
gnomAD v2:
10-73560331-T-C
gnomAD v3:
10-71800574-T-C
gnomAD v4:
10-71800574-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71800574T>C , CM000672.2:g.71800574T>C | GRCh38 |
| NC_000010.10:g.73560331T>C , CM000672.1:g.73560331T>C | GRCh37 |
| NC_000010.9:g.73230337T>C | NCBI36 |
| NG_008835.1:g.408628T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.7363-62T>C MANE Select | ENSP00000224721.9:n.7363-62T>C | |
| ENST00000642965.1:c.1296-62T>C | ENSP00000495222.1:n.1296-62T>C | |
| ENST00000647092.1:c.960-62T>C | ENSP00000495176.1:n.960-62T>C | |
| ENST00000224721.10:c.7378-62T>C | ENSP00000224721.8:n.7378-62T>C | |
| ENST00000398788.4:c.643-62T>C | ENSP00000381768.3:n.643-62T>C | |
| ENST00000475158.1:n.899-62T>C | ||
| ENST00000619887.4:c.643-62T>C | ENSP00000478374.1:n.643-62T>C | |
| ENST00000622827.4:c.7363-62T>C | ENSP00000483211.1:n.7363-62T>C | |
| NM_001171933.1:c.643-62T>C | NP_001165404.1:n.643-62T>C | |
| NM_001171934.1:c.643-62T>C | NP_001165405.1:n.643-62T>C | |
| NM_022124.5:c.7363-62T>C | NP_071407.4:n.7363-62T>C | |
| XM_006717940.2:c.7558-62T>C | XP_006718003.1:n.7558-62T>C | |
| XM_006717942.2:c.7492-62T>C | XP_006718005.1:n.7492-62T>C | |
| XM_011540039.1:c.7555-62T>C | XP_011538341.1:n.7555-62T>C | |
| XM_011540040.1:c.7552-62T>C | XP_011538342.1:n.7552-62T>C | |
| XM_011540041.1:c.7498-62T>C | XP_011538343.1:n.7498-62T>C | |
| XM_011540042.1:c.7468-62T>C | XP_011538344.1:n.7468-62T>C | |
| XM_011540043.1:c.7558-62T>C | XP_011538345.1:n.7558-62T>C | |
| XM_011540044.1:c.7423-62T>C | XP_011538346.1:n.7423-62T>C | |
| XM_011540045.1:c.7558-62T>C | XP_011538347.1:n.7558-62T>C | |
| XM_011540046.1:c.7018-62T>C | XP_011538348.1:n.7018-62T>C | |
| XM_011540047.1:c.6376-62T>C | XP_011538349.1:n.6376-62T>C | |
| XM_011540052.1:c.3886-62T>C | XP_011538354.1:n.3886-62T>C | |
| NM_022124.6:c.7363-62T>C MANE Select | NP_071407.4:n.7363-62T>C |