Linked Data
dbSNP Id:
rs2060996015
gnomAD v3:
17-61590707-C-T
gnomAD v4:
17-61590707-C-T
MyVariant Identifiers:
chr17:g.59668068C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61590707C>T , CM000679.2:g.61590707C>T | GRCh38 |
| NC_000017.10:g.59668068C>T , CM000679.1:g.59668068C>T | GRCh37 |
| NC_000017.9:g.57022850C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521764.3:c.474G>A MANE Select | ENSP00000427802.1:p.Gln158= | |
| ENST00000521764.2:c.474G>A | ENSP00000427802.1:p.Gln158= | |
| NM_199290.3:c.474G>A | NP_954984.1:p.Gln158= | |
| NM_199290.4:c.474G>A MANE Select | NP_954984.1:p.Gln158= |