Linked Data
ClinVar Variation Id:
629550
dbSNP Id:
rs571577908
ExAC:
6:7585342 C / T
gnomAD v2:
6-7585342-C-T
gnomAD v3:
6-7585109-C-T
gnomAD v4:
6-7585109-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7585109C>T , CM000668.2:g.7585109C>T | GRCh38 |
| NC_000006.11:g.7585342C>T , CM000668.1:g.7585342C>T | GRCh37 |
| NC_000006.10:g.7530341C>T | NCBI36 |
| NG_008803.1:g.48473C>T , LRG_423:g.48473C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.6518C>T | ENSP00000518230.1:p.Ser2173Leu | |
| ENST00000379802.8:c.7847C>T MANE Select | ENSP00000369129.3:p.Ser2616Leu | |
| ENST00000379802.7:c.7847C>T | ENSP00000369129.3:p.Ser2616Leu | |
| ENST00000418664.2:c.6050C>T | ENSP00000396591.2:p.Ser2017Leu | |
| NM_001008844.1:c.6050C>T | NP_001008844.1:p.Ser2017Leu | |
| NM_004415.2:c.7847C>T , LRG_423t1:c.7847C>T | NP_004406.2:p.Ser2616Leu | |
| XM_011514323.1:c.6518C>T | XP_011512625.1:p.Ser2173Leu | |
| NM_001008844.2:c.6050C>T | NP_001008844.1:p.Ser2017Leu | |
| NM_001319034.1:c.6518C>T | NP_001305963.1:p.Ser2173Leu | |
| NM_004415.3:c.7847C>T | NP_004406.2:p.Ser2616Leu | |
| NM_004415.4:c.7847C>T MANE Select | NP_004406.2:p.Ser2616Leu | |
| NM_001008844.3:c.6050C>T | NP_001008844.1:p.Ser2017Leu | |
| NM_001319034.2:c.6518C>T | NP_001305963.1:p.Ser2173Leu |