Linked Data
ClinVar Variation Id:
216184
dbSNP Id:
rs863224552
gnomAD v2:
5-112179504-T-C
gnomAD v4:
5-112843807-T-C
PubMed:
PMID:9950360
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843807T>C , CM000667.2:g.112843807T>C | GRCh38 |
| NC_000005.9:g.112179504T>C , CM000667.1:g.112179504T>C | GRCh37 |
| NC_000005.8:g.112207403T>C | NCBI36 |
| NG_008481.4:g.156287T>C , LRG_130:g.156287T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.8267T>C | ENSP00000473355.2:p.Ile2756Thr | |
| ENST00000505350.2:c.*8219T>C | ENSP00000481752.1:n.*8219T>C | |
| ENST00000507379.6:c.8159T>C | ENSP00000423224.2:p.Ile2720Thr | |
| ENST00000509732.6:c.8213T>C | ENSP00000426541.2:p.Ile2738Thr | |
| ENST00000512211.7:c.8213T>C | ENSP00000423828.3:p.Ile2738Thr | |
| ENST00000257430.9:c.8213T>C MANE Select | ENSP00000257430.4:p.Ile2738Thr | |
| ENST00000257430.8:c.8213T>C | ENSP00000257430.4:p.Ile2738Thr | |
| ENST00000508376.6:c.8213T>C | ENSP00000427089.2:p.Ile2738Thr | |
| ENST00000520401.1:c.231-12842T>C | ||
| NM_000038.5:c.8213T>C | NP_000029.2:p.Ile2738Thr | |
| NM_001127510.2:c.8213T>C | NP_001120982.1:p.Ile2738Thr | |
| NM_001127511.2:c.8159T>C | NP_001120983.2:p.Ile2720Thr | |
| NM_001354895.1:c.8213T>C | NP_001341824.1:p.Ile2738Thr | |
| NM_001354896.1:c.8267T>C | NP_001341825.1:p.Ile2756Thr | |
| NM_001354897.1:c.8243T>C | NP_001341826.1:p.Ile2748Thr | |
| NM_001354898.1:c.8138T>C | NP_001341827.1:p.Ile2713Thr | |
| NM_001354899.1:c.8129T>C | NP_001341828.1:p.Ile2710Thr | |
| NM_001354900.1:c.8090T>C | NP_001341829.1:p.Ile2697Thr | |
| NM_001354901.1:c.8036T>C | NP_001341830.1:p.Ile2679Thr | |
| NM_001354902.1:c.7940T>C | NP_001341831.1:p.Ile2647Thr | |
| NM_001354903.1:c.7910T>C | NP_001341832.1:p.Ile2637Thr | |
| NM_001354904.1:c.7835T>C | NP_001341833.1:p.Ile2612Thr | |
| NM_001354905.1:c.7733T>C | NP_001341834.1:p.Ile2578Thr | |
| NM_001354906.1:c.7364T>C | NP_001341835.1:p.Ile2455Thr | |
| NM_000038.6:c.8213T>C MANE Select | NP_000029.2:p.Ile2738Thr | |
| NM_001127510.3:c.8213T>C | NP_001120982.1:p.Ile2738Thr | |
| NM_001127511.3:c.8159T>C | NP_001120983.2:p.Ile2720Thr | |
| NM_001354895.2:c.8213T>C | NP_001341824.1:p.Ile2738Thr | |
| NM_001354896.2:c.8267T>C | NP_001341825.1:p.Ile2756Thr | |
| NM_001354897.2:c.8243T>C | NP_001341826.1:p.Ile2748Thr | |
| NM_001354898.2:c.8138T>C | NP_001341827.1:p.Ile2713Thr | |
| NM_001354899.2:c.8129T>C | NP_001341828.1:p.Ile2710Thr | |
| NM_001354900.2:c.8090T>C | NP_001341829.1:p.Ile2697Thr | |
| NM_001354901.2:c.8036T>C | NP_001341830.1:p.Ile2679Thr | |
| NM_001354902.2:c.7940T>C | NP_001341831.1:p.Ile2647Thr | |
| NM_001354903.2:c.7910T>C | NP_001341832.1:p.Ile2637Thr | |
| NM_001354904.2:c.7835T>C | NP_001341833.1:p.Ile2612Thr | |
| NM_001354905.2:c.7733T>C | NP_001341834.1:p.Ile2578Thr | |
| NM_001354906.2:c.7364T>C | NP_001341835.1:p.Ile2455Thr |