Linked Data
dbSNP Id:
rs181978594
ExAC:
4:40356414 G / T
gnomAD v2:
4-40356414-G-T
gnomAD v3:
4-40354397-G-T
gnomAD v4:
4-40354397-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354397G>T , CM000666.2:g.40354397G>T | GRCh38 |
| NC_000004.11:g.40356414G>T , CM000666.1:g.40356414G>T | GRCh37 |
| NC_000004.10:g.40051171G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310169.3:c.1317G>T MANE Select | ENSP00000312663.2:p.Lys439Asn | |
| ENST00000310169.2:c.1317G>T | ENSP00000312663.2:p.Lys439Asn | |
| NM_017581.3:c.1317G>T | NP_060051.2:p.Lys439Asn | |
| NM_017581.4:c.1317G>T MANE Select | NP_060051.2:p.Lys439Asn |