Linked Data
ClinVar Variation Id:
477510
ClinVar RCV Id:
RCV000544403
dbSNP Id:
rs1554305958
gnomAD v4:
6-129481431-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129481431A>T , CM000668.2:g.129481431A>T | GRCh38 |
| NC_000006.11:g.129802576A>T , CM000668.1:g.129802576A>T | GRCh37 |
| NC_000006.10:g.129844269A>T | NCBI36 |
| NG_008678.1:g.603291A>T , LRG_409:g.603291A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.7729A>T | ENSP00000481744.2:p.Thr2577Ser | |
| ENST00000618192.5:c.8005A>T | ENSP00000480802.2:p.Thr2669Ser | |
| ENST00000421865.3:c.7741A>T MANE Select | ENSP00000400365.2:p.Thr2581Ser | |
| ENST00000421865.2:c.7741A>T | ENSP00000400365.2:p.Thr2581Ser | |
| ENST00000617695.4:c.7729A>T | ENSP00000481744.1:p.Thr2577Ser | |
| ENST00000618192.4:c.7738A>T | ENSP00000480802.1:p.Thr2580Ser | |
| NM_000426.3:c.7741A>T , LRG_409t1:c.7741A>T | NP_000417.2:p.Thr2581Ser | |
| NM_001079823.1:c.7729A>T | NP_001073291.1:p.Thr2577Ser | |
| XM_005266981.2:c.8005A>T | XP_005267038.1:p.Thr2669Ser | |
| XM_005266982.2:c.7993A>T | XP_005267039.1:p.Thr2665Ser | |
| XM_011535820.1:c.7999A>T | XP_011534122.1:p.Thr2667Ser | |
| XM_005266981.3:c.8005A>T | XP_005267038.1:p.Thr2669Ser | |
| XM_005266982.3:c.7993A>T | XP_005267039.1:p.Thr2665Ser | |
| XM_011535820.2:c.7999A>T | XP_011534122.1:p.Thr2667Ser | |
| XM_017010851.2:c.8011A>T | XP_016866340.1:p.Thr2671Ser | |
| XM_017010852.1:c.6136A>T | XP_016866341.1:p.Thr2046Ser | |
| NM_000426.4:c.7741A>T MANE Select | NP_000417.3:p.Thr2581Ser | |
| NM_001079823.2:c.7729A>T | NP_001073291.2:p.Thr2577Ser |