Linked Data
ClinVar Variation Id:
1002980
dbSNP Id:
rs1229128923
gnomAD v2:
6-7585405-T-C
gnomAD v3:
6-7585172-T-C
gnomAD v4:
6-7585172-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7585172T>C , CM000668.2:g.7585172T>C | GRCh38 |
| NC_000006.11:g.7585405T>C , CM000668.1:g.7585405T>C | GRCh37 |
| NC_000006.10:g.7530404T>C | NCBI36 |
| NG_008803.1:g.48536T>C , LRG_423:g.48536T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.6581T>C | ENSP00000518230.1:p.Ile2194Thr | |
| ENST00000379802.8:c.7910T>C MANE Select | ENSP00000369129.3:p.Ile2637Thr | |
| ENST00000379802.7:c.7910T>C | ENSP00000369129.3:p.Ile2637Thr | |
| ENST00000418664.2:c.6113T>C | ENSP00000396591.2:p.Ile2038Thr | |
| NM_001008844.1:c.6113T>C | NP_001008844.1:p.Ile2038Thr | |
| NM_004415.2:c.7910T>C , LRG_423t1:c.7910T>C | NP_004406.2:p.Ile2637Thr | |
| XM_011514323.1:c.6581T>C | XP_011512625.1:p.Ile2194Thr | |
| NM_001008844.2:c.6113T>C | NP_001008844.1:p.Ile2038Thr | |
| NM_001319034.1:c.6581T>C | NP_001305963.1:p.Ile2194Thr | |
| NM_004415.3:c.7910T>C | NP_004406.2:p.Ile2637Thr | |
| NM_004415.4:c.7910T>C MANE Select | NP_004406.2:p.Ile2637Thr | |
| NM_001008844.3:c.6113T>C | NP_001008844.1:p.Ile2038Thr | |
| NM_001319034.2:c.6581T>C | NP_001305963.1:p.Ile2194Thr |