Linked Data
dbSNP Id:
rs1313198373
gnomAD v2:
10-96796918-T-C
gnomAD v3:
10-95037161-T-C
gnomAD v4:
10-95037161-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95037161T>C , CM000672.2:g.95037161T>C | GRCh38 |
| NC_000010.10:g.96796918T>C , CM000672.1:g.96796918T>C | GRCh37 |
| NC_000010.9:g.96786908T>C | NCBI36 |
| NG_007972.1:g.37337A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371270.6:c.1440A>G MANE Select | ENSP00000360317.3:p.Pro480= | |
| ENST00000371270.5:c.1440A>G | ENSP00000360317.3:p.Pro480= | |
| ENST00000490994.6:c.*1226A>G | ENSP00000433314.1:n.*1226A>G | |
| ENST00000525991.5:c.*1015A>G | ENSP00000433842.1:n.*1015A>G | |
| ENST00000526814.5:n.1695A>G | ||
| ENST00000527420.5:c.*297A>G | ENSP00000433191.1:n.*297A>G | |
| ENST00000527953.5:n.1734A>G | ||
| ENST00000533320.5:n.1674A>G | ||
| ENST00000535898.5:c.1134A>G | ENSP00000445062.1:p.Pro378= | |
| ENST00000539050.5:c.1230A>G | ENSP00000442343.2:p.Pro410= | |
| ENST00000623108.3:c.1230A>G | ENSP00000485110.1:p.Pro410= | |
| NM_000770.3:c.1440A>G MANE Select | NP_000761.3:p.Pro480= | |
| NM_001198853.1:c.1230A>G | NP_001185782.1:p.Pro410= | |
| NM_001198854.1:c.1134A>G | NP_001185783.1:p.Pro378= | |
| NM_001198855.1:c.1230A>G | NP_001185784.1:p.Pro410= |