Linked Data
dbSNP Id:
rs17610181
ExAC:
17:59667953 G / A
gnomAD v2:
17-59667953-G-A
gnomAD v3:
17-61590592-G-A
gnomAD v4:
17-61590592-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61590592G>A , CM000679.2:g.61590592G>A | GRCh38 |
| NC_000017.10:g.59667953G>A , CM000679.1:g.59667953G>A | GRCh37 |
| NC_000017.9:g.57022735G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000521764.3:c.589C>T MANE Select | ENSP00000427802.1:p.Arg197Ter | |
| ENST00000521764.2:c.589C>T | ENSP00000427802.1:p.Arg197Ter | |
| NM_199290.3:c.589C>T | NP_954984.1:p.Arg197Ter | |
| NM_199290.4:c.589C>T MANE Select | NP_954984.1:p.Arg197Ter |