Linked Data
ClinVar Variation Id:
41537
dbSNP Id:
rs199806334
gnomAD v4:
5-112843351-G-T
PubMed:
PMID:22703879
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843351G>T , CM000667.2:g.112843351G>T | GRCh38 |
| NC_000005.9:g.112179048G>T , CM000667.1:g.112179048G>T | GRCh37 |
| NC_000005.8:g.112206947G>T | NCBI36 |
| NG_008481.4:g.155831G>T , LRG_130:g.155831G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.7811G>T | ENSP00000473355.2:p.Ser2604Ile | |
| ENST00000505350.2:c.*7763G>T | ENSP00000481752.1:n.*7763G>T | |
| ENST00000507379.6:c.7703G>T | ENSP00000423224.2:p.Ser2568Ile | |
| ENST00000509732.6:c.7757G>T | ENSP00000426541.2:p.Ser2586Ile | |
| ENST00000512211.7:c.7757G>T | ENSP00000423828.3:p.Ser2586Ile | |
| ENST00000257430.9:c.7757G>T MANE Select | ENSP00000257430.4:p.Ser2586Ile | |
| ENST00000257430.8:c.7757G>T | ENSP00000257430.4:p.Ser2586Ile | |
| ENST00000508376.6:c.7757G>T | ENSP00000427089.2:p.Ser2586Ile | |
| ENST00000520401.1:c.231-13298G>T | ||
| NM_000038.5:c.7757G>T | NP_000029.2:p.Ser2586Ile | |
| NM_001127510.2:c.7757G>T | NP_001120982.1:p.Ser2586Ile | |
| NM_001127511.2:c.7703G>T | NP_001120983.2:p.Ser2568Ile | |
| NM_001354895.1:c.7757G>T | NP_001341824.1:p.Ser2586Ile | |
| NM_001354896.1:c.7811G>T | NP_001341825.1:p.Ser2604Ile | |
| NM_001354897.1:c.7787G>T | NP_001341826.1:p.Ser2596Ile | |
| NM_001354898.1:c.7682G>T | NP_001341827.1:p.Ser2561Ile | |
| NM_001354899.1:c.7673G>T | NP_001341828.1:p.Ser2558Ile | |
| NM_001354900.1:c.7634G>T | NP_001341829.1:p.Ser2545Ile | |
| NM_001354901.1:c.7580G>T | NP_001341830.1:p.Ser2527Ile | |
| NM_001354902.1:c.7484G>T | NP_001341831.1:p.Ser2495Ile | |
| NM_001354903.1:c.7454G>T | NP_001341832.1:p.Ser2485Ile | |
| NM_001354904.1:c.7379G>T | NP_001341833.1:p.Ser2460Ile | |
| NM_001354905.1:c.7277G>T | NP_001341834.1:p.Ser2426Ile | |
| NM_001354906.1:c.6908G>T | NP_001341835.1:p.Ser2303Ile | |
| NM_000038.6:c.7757G>T MANE Select | NP_000029.2:p.Ser2586Ile | |
| NM_001127510.3:c.7757G>T | NP_001120982.1:p.Ser2586Ile | |
| NM_001127511.3:c.7703G>T | NP_001120983.2:p.Ser2568Ile | |
| NM_001354895.2:c.7757G>T | NP_001341824.1:p.Ser2586Ile | |
| NM_001354896.2:c.7811G>T | NP_001341825.1:p.Ser2604Ile | |
| NM_001354897.2:c.7787G>T | NP_001341826.1:p.Ser2596Ile | |
| NM_001354898.2:c.7682G>T | NP_001341827.1:p.Ser2561Ile | |
| NM_001354899.2:c.7673G>T | NP_001341828.1:p.Ser2558Ile | |
| NM_001354900.2:c.7634G>T | NP_001341829.1:p.Ser2545Ile | |
| NM_001354901.2:c.7580G>T | NP_001341830.1:p.Ser2527Ile | |
| NM_001354902.2:c.7484G>T | NP_001341831.1:p.Ser2495Ile | |
| NM_001354903.2:c.7454G>T | NP_001341832.1:p.Ser2485Ile | |
| NM_001354904.2:c.7379G>T | NP_001341833.1:p.Ser2460Ile | |
| NM_001354905.2:c.7277G>T | NP_001341834.1:p.Ser2426Ile | |
| NM_001354906.2:c.6908G>T | NP_001341835.1:p.Ser2303Ile |