Linked Data
dbSNP Id:
rs1974115200
gnomAD v3:
17-43755342-C-T
gnomAD v4:
17-43755342-C-T
MyVariant Identifiers:
chr17:g.41832710C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43755342C>T , CM000679.2:g.43755342C>T | GRCh38 |
| NC_000017.10:g.41832710C>T , CM000679.1:g.41832710C>T | GRCh37 |
| NC_000017.9:g.39188236C>T | NCBI36 |
| NG_008078.2:g.8447G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301691.3:c.642G>A MANE Select | ENSP00000301691.1:p.Ter214= | |
| ENST00000301691.2:c.642G>A | ENSP00000301691.1:p.Ter214= | |
| NM_025237.2:c.642G>A | NP_079513.1:p.Ter214= | |
| NM_025237.3:c.642G>A MANE Select | NP_079513.1:p.Ter214= |