Linked Data
dbSNP Id:
rs750039970
ExAC:
5:110407592 T / C
gnomAD v2:
5-110407592-T-C
gnomAD v4:
5-111071894-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111071894T>C , CM000667.2:g.111071894T>C | GRCh38 |
| NC_000005.9:g.110407592T>C , CM000667.1:g.110407592T>C | GRCh37 |
| NC_000005.8:g.110435491T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344895.4:c.4T>C MANE Select | ENSP00000339804.3:p.Phe2Leu | |
| ENST00000344895.3:c.4T>C | ENSP00000339804.3:p.Phe2Leu | |
| ENST00000420978.6:c.35-31T>C | ENSP00000399099.2:n.35-31T>C | |
| NM_033035.4:c.4T>C | NP_149024.1:p.Phe2Leu | |
| NR_045089.1:n.1439-31T>C | ||
| NM_033035.5:c.4T>C MANE Select | NP_149024.1:p.Phe2Leu | |
| NR_045089.2:n.1457-31T>C |