Linked Data
dbSNP Id:
rs763721564
ExAC:
19:46270230 T / C
gnomAD v2:
19-46270230-T-C
gnomAD v3:
19-45766972-T-C
gnomAD v4:
19-45766972-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766972T>C , CM000681.2:g.45766972T>C | GRCh38 |
| NC_000019.9:g.46270230T>C , CM000681.1:g.46270230T>C | GRCh37 |
| NC_000019.8:g.50962070T>C | NCBI36 |
| NG_012745.1:g.7268A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.987A>G MANE Select | ENSP00000316842.4:p.Ala329= | |
| ENST00000317578.6:c.987A>G | ENSP00000316842.4:p.Ala329= | |
| ENST00000560160.1:c.587-861A>G | ||
| ENST00000560168.1:c.*175A>G | ENSP00000453189.2:n.*175A>G | |
| ENST00000622857.1:c.16-1010A>G | ENSP00000481365.1:n.16-1010A>G | |
| NM_175875.4:c.987A>G | NP_787071.2:p.Ala329= | |
| NM_175875.5:c.987A>G MANE Select | NP_787071.3:p.Ala329= |