Linked Data
ClinVar Variation Id:
191646
ClinVar RCV Id:
RCV000171924
RCV000618112
RCV001088341
RCV001160406
RCV001160407
RCV001160408
RCV001183474
dbSNP Id:
rs201826850
ExAC:
6:7585957 C / T
gnomAD v2:
6-7585957-C-T
gnomAD v3:
6-7585724-C-T
gnomAD v4:
6-7585724-C-T
COSMIC:
COSM3629851
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7585724C>T , CM000668.2:g.7585724C>T | GRCh38 |
| NC_000006.11:g.7585957C>T , CM000668.1:g.7585957C>T | GRCh37 |
| NC_000006.10:g.7530956C>T | NCBI36 |
| NG_008803.1:g.49088C>T , LRG_423:g.49088C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.7133C>T | ENSP00000518230.1:p.Ser2378Leu | |
| ENST00000379802.8:c.8462C>T MANE Select | ENSP00000369129.3:p.Ser2821Leu | |
| ENST00000379802.7:c.8462C>T | ENSP00000369129.3:p.Ser2821Leu | |
| ENST00000418664.2:c.6665C>T | ENSP00000396591.2:p.Ser2222Leu | |
| NM_001008844.1:c.6665C>T | NP_001008844.1:p.Ser2222Leu | |
| NM_004415.2:c.8462C>T , LRG_423t1:c.8462C>T | NP_004406.2:p.Ser2821Leu | |
| XM_011514323.1:c.7133C>T | XP_011512625.1:p.Ser2378Leu | |
| NM_001008844.2:c.6665C>T | NP_001008844.1:p.Ser2222Leu | |
| NM_001319034.1:c.7133C>T | NP_001305963.1:p.Ser2378Leu | |
| NM_004415.3:c.8462C>T | NP_004406.2:p.Ser2821Leu | |
| NM_004415.4:c.8462C>T MANE Select | NP_004406.2:p.Ser2821Leu | |
| NM_001008844.3:c.6665C>T | NP_001008844.1:p.Ser2222Leu | |
| NM_001319034.2:c.7133C>T | NP_001305963.1:p.Ser2378Leu |