Linked Data
dbSNP Id:
rs782760700
ExAC:
X:50653791 T / C
gnomAD v2:
X-50653791-T-C
gnomAD v3:
X-50910791-T-C
gnomAD v4:
X-50910791-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50910791T>C , CM000685.2:g.50910791T>C | GRCh38 |
| NC_000023.10:g.50653791T>C , CM000685.1:g.50653791T>C | GRCh37 |
| NC_000023.9:g.50670531T>C | NCBI36 |
| NG_012894.1:g.5008T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.8T>C MANE Select | ENSP00000252677.3:p.Leu3Pro | |
| ENST00000252677.3:c.8T>C | ENSP00000252677.3:p.Leu3Pro | |
| NM_005448.2:c.8T>C MANE Select | NP_005439.2:p.Leu3Pro |