Linked Data
dbSNP Id:
rs780458948
gnomAD v3:
5-148827653-G-C
gnomAD v4:
5-148827653-G-C
MyVariant Identifiers:
chr5:g.148207216G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827653G>C , CM000667.2:g.148827653G>C | GRCh38 |
| NC_000005.9:g.148207216G>C , CM000667.1:g.148207216G>C | GRCh37 |
| NC_000005.8:g.148187409G>C | NCBI36 |
| NG_016421.1:g.6061G>C | |
| NG_016421.2:g.6061G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.822G>C MANE Select | ENSP00000305372.4:p.Thr274= | |
| ENST00000305988.5:c.822G>C | ENSP00000305372.4:p.Thr274= | |
| NM_000024.5:c.822G>C | NP_000015.1:p.Thr274= | |
| NM_000024.6:c.822G>C MANE Select | NP_000015.2:p.Thr274= |