Linked Data
dbSNP Id:
rs756579664
ExAC:
19:36340215 C / A
gnomAD v2:
19-36340215-C-A
gnomAD v3:
19-35849313-C-A
gnomAD v4:
19-35849313-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35849313C>A , CM000681.2:g.35849313C>A | GRCh38 |
| NC_000019.9:g.36340215C>A , CM000681.1:g.36340215C>A | GRCh37 |
| NC_000019.8:g.41032055C>A | NCBI36 |
| NG_013356.2:g.24975G>T , LRG_693:g.24975G>T | |
| NG_051206.1:g.2679C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.763G>T MANE Select | ENSP00000368190.4:p.Val255Leu | |
| ENST00000353632.6:c.763G>T | ENSP00000343634.5:p.Val255Leu | |
| ENST00000378910.9:c.763G>T | ENSP00000368190.4:p.Val255Leu | |
| NM_004646.3:c.763G>T , LRG_693t1:c.763G>T | NP_004637.1:p.Val255Leu | |
| NM_004646.4:c.763G>T MANE Select | NP_004637.1:p.Val255Leu |