Linked Data
dbSNP Id:
rs767284402
ExAC:
19:2251928 T / C
gnomAD v2:
19-2251928-T-C
gnomAD v3:
19-2251929-T-C
gnomAD v4:
19-2251929-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2251929T>C , CM000681.2:g.2251929T>C | GRCh38 |
| NC_000019.9:g.2251928T>C , CM000681.1:g.2251928T>C | GRCh37 |
| NC_000019.8:g.2202928T>C | NCBI36 |
| NG_012190.1:g.7816T>C | |
| NG_032853.1:g.9495A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.1655T>C MANE Select | ENSP00000221496.2:p.Met552Thr | |
| ENST00000221496.4:c.1655T>C | ENSP00000221496.2:p.Met552Thr | |
| NM_000479.3:c.1655T>C | NP_000470.2:p.Met552Thr | |
| NM_000479.4:c.1655T>C | NP_000470.2:p.Met552Thr | |
| NM_000479.5:c.1655T>C MANE Select | NP_000470.3:p.Met552Thr |