Linked Data
dbSNP Id:
rs755508830
ExAC:
17:40556742 G / T
gnomAD v2:
17-40556742-G-T
gnomAD v4:
17-42404724-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404724G>T , CM000679.2:g.42404724G>T | GRCh38 |
| NC_000017.10:g.40556742G>T , CM000679.1:g.40556742G>T | GRCh37 |
| NC_000017.9:g.37810268G>T | NCBI36 |
| NG_015845.1:g.23597C>A | |
| NG_015845.2:g.23597C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.1136C>A MANE Select | ENSP00000349541.4:p.Ser379Ter | |
| ENST00000357037.5:c.1136C>A | ENSP00000349541.4:p.Ser379Ter | |
| NM_012232.5:c.1136C>A | NP_036364.2:p.Ser379Ter | |
| NM_012232.6:c.1136C>A MANE Select | NP_036364.2:p.Ser379Ter |