Linked Data
ClinVar Variation Id:
489503
dbSNP Id:
rs1291474243
gnomAD v2:
5-112179498-C-T
gnomAD v3:
5-112843801-C-T
gnomAD v4:
5-112843801-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843801C>T , CM000667.2:g.112843801C>T | GRCh38 |
| NC_000005.9:g.112179498C>T , CM000667.1:g.112179498C>T | GRCh37 |
| NC_000005.8:g.112207397C>T | NCBI36 |
| NG_008481.4:g.156281C>T , LRG_130:g.156281C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.8261C>T | ENSP00000473355.2:p.Thr2754Ile | |
| ENST00000505350.2:c.*8213C>T | ENSP00000481752.1:n.*8213C>T | |
| ENST00000507379.6:c.8153C>T | ENSP00000423224.2:p.Thr2718Ile | |
| ENST00000509732.6:c.8207C>T | ENSP00000426541.2:p.Thr2736Ile | |
| ENST00000512211.7:c.8207C>T | ENSP00000423828.3:p.Thr2736Ile | |
| ENST00000257430.9:c.8207C>T MANE Select | ENSP00000257430.4:p.Thr2736Ile | |
| ENST00000257430.8:c.8207C>T | ENSP00000257430.4:p.Thr2736Ile | |
| ENST00000508376.6:c.8207C>T | ENSP00000427089.2:p.Thr2736Ile | |
| ENST00000520401.1:c.231-12848C>T | ||
| NM_000038.5:c.8207C>T | NP_000029.2:p.Thr2736Ile | |
| NM_001127510.2:c.8207C>T | NP_001120982.1:p.Thr2736Ile | |
| NM_001127511.2:c.8153C>T | NP_001120983.2:p.Thr2718Ile | |
| NM_001354895.1:c.8207C>T | NP_001341824.1:p.Thr2736Ile | |
| NM_001354896.1:c.8261C>T | NP_001341825.1:p.Thr2754Ile | |
| NM_001354897.1:c.8237C>T | NP_001341826.1:p.Thr2746Ile | |
| NM_001354898.1:c.8132C>T | NP_001341827.1:p.Thr2711Ile | |
| NM_001354899.1:c.8123C>T | NP_001341828.1:p.Thr2708Ile | |
| NM_001354900.1:c.8084C>T | NP_001341829.1:p.Thr2695Ile | |
| NM_001354901.1:c.8030C>T | NP_001341830.1:p.Thr2677Ile | |
| NM_001354902.1:c.7934C>T | NP_001341831.1:p.Thr2645Ile | |
| NM_001354903.1:c.7904C>T | NP_001341832.1:p.Thr2635Ile | |
| NM_001354904.1:c.7829C>T | NP_001341833.1:p.Thr2610Ile | |
| NM_001354905.1:c.7727C>T | NP_001341834.1:p.Thr2576Ile | |
| NM_001354906.1:c.7358C>T | NP_001341835.1:p.Thr2453Ile | |
| NM_000038.6:c.8207C>T MANE Select | NP_000029.2:p.Thr2736Ile | |
| NM_001127510.3:c.8207C>T | NP_001120982.1:p.Thr2736Ile | |
| NM_001127511.3:c.8153C>T | NP_001120983.2:p.Thr2718Ile | |
| NM_001354895.2:c.8207C>T | NP_001341824.1:p.Thr2736Ile | |
| NM_001354896.2:c.8261C>T | NP_001341825.1:p.Thr2754Ile | |
| NM_001354897.2:c.8237C>T | NP_001341826.1:p.Thr2746Ile | |
| NM_001354898.2:c.8132C>T | NP_001341827.1:p.Thr2711Ile | |
| NM_001354899.2:c.8123C>T | NP_001341828.1:p.Thr2708Ile | |
| NM_001354900.2:c.8084C>T | NP_001341829.1:p.Thr2695Ile | |
| NM_001354901.2:c.8030C>T | NP_001341830.1:p.Thr2677Ile | |
| NM_001354902.2:c.7934C>T | NP_001341831.1:p.Thr2645Ile | |
| NM_001354903.2:c.7904C>T | NP_001341832.1:p.Thr2635Ile | |
| NM_001354904.2:c.7829C>T | NP_001341833.1:p.Thr2610Ile | |
| NM_001354905.2:c.7727C>T | NP_001341834.1:p.Thr2576Ile | |
| NM_001354906.2:c.7358C>T | NP_001341835.1:p.Thr2453Ile |