Linked Data
dbSNP Id:
rs782609560
ExAC:
7:73097314 G / T
gnomAD v2:
7-73097314-G-T
gnomAD v4:
7-73682984-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73682984G>T , CM000669.2:g.73682984G>T | GRCh38 |
| NC_000007.13:g.73097314G>T , CM000669.1:g.73097314G>T | GRCh37 |
| NC_000007.12:g.72735250G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395176.3:c.440C>A MANE Select | ENSP00000378605.1:p.Thr147Asn | |
| ENST00000395176.2:c.440C>A | ENSP00000378605.1:p.Thr147Asn | |
| NM_032317.2:c.440C>A | NP_115693.2:p.Thr147Asn | |
| NM_032317.3:c.440C>A MANE Select | NP_115693.2:p.Thr147Asn |