Linked Data
dbSNP Id:
rs753502458
ExAC:
7:21893994 T / C
gnomAD v2:
7-21893994-T-C
gnomAD v4:
7-21854376-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21854376T>C , CM000669.2:g.21854376T>C | GRCh38 |
| NC_000007.13:g.21893994T>C , CM000669.1:g.21893994T>C | GRCh37 |
| NC_000007.12:g.21860519T>C | NCBI36 |
| NG_012886.2:g.316162T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.11123T>C MANE Select | ENSP00000475939.1:p.Val3708Ala | |
| ENST00000328843.10:c.11144T>C | ENSP00000330671.7:p.Val3715Ala | |
| ENST00000409508.7:c.11123T>C | ENSP00000475939.1:p.Val3708Ala | |
| ENST00000421290.1:n.306T>C | ||
| ENST00000607413.5:n.386T>C | ||
| ENST00000620169.4:c.11144T>C | ENSP00000481693.1:p.Val3715Ala | |
| NM_001277115.1:c.11123T>C | NP_001264044.1:p.Val3708Ala | |
| NM_001277115.2:c.11123T>C MANE Select | NP_001264044.1:p.Val3708Ala |