Linked Data
dbSNP Id:
rs761403886
ExAC:
14:101349309 G / T
gnomAD v2:
14-101349309-G-T
gnomAD v4:
14-100882972-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100882972G>T , CM000676.2:g.100882972G>T | GRCh38 |
| NC_000014.8:g.101349309G>T , CM000676.1:g.101349309G>T | GRCh37 |
| NC_000014.7:g.100419062G>T | NCBI36 |
| NG_045001.1:g.6876C>A | |
| NG_045000.5:g.51704G>T | |
| NG_045000.6:g.51704G>T | |
| NG_045001.2:g.25751C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.1817C>A MANE Select | ENSP00000497482.1:p.Thr606Asn | |
| ENST00000534062.1:c.1817C>A | ENSP00000435342.1:p.Thr606Asn | |
| NM_001134888.2:c.1817C>A | NP_001128360.1:p.Thr606Asn | |
| NM_001134888.3:c.1817C>A MANE Select | NP_001128360.1:p.Thr606Asn |