Linked Data
dbSNP Id:
rs576854504
ExAC:
6:31914010 T / A
gnomAD v3:
6-31946233-T-A
gnomAD v4:
6-31946233-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31946233T>A , CM000668.2:g.31946233T>A | GRCh38 |
| NC_000006.11:g.31914010T>A , CM000668.1:g.31914010T>A | GRCh37 |
| NC_000006.10:g.32021989T>A | NCBI36 |
| NG_008191.1:g.5290T>A , LRG_136:g.5290T>A | |
| NG_011730.1:g.23745T>A , LRG_26:g.23745T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.189T>A | ||
| ENST00000483004.2:c.12T>A | ENSP00000419887.2:p.Asn4Lys | |
| ENST00000497841.6:c.12T>A | ENSP00000513847.1:p.Asn4Lys | |
| ENST00000698628.1:c.12T>A | ENSP00000513848.1:p.Asn4Lys | |
| ENST00000698629.1:n.189T>A | ||
| ENST00000698630.1:n.173T>A | ||
| ENST00000698631.1:n.168T>A | ||
| ENST00000698632.1:n.140T>A | ||
| ENST00000698633.1:n.110T>A | ||
| ENST00000698636.1:n.234T>A | ||
| ENST00000425368.7:c.12T>A MANE Select | ENSP00000416561.2:p.Asn4Lys | |
| ENST00000425368.6:c.12T>A | ENSP00000416561.2:p.Asn4Lys | |
| ENST00000452035.6:n.12T>A | ||
| ENST00000456570.5:c.1571-140T>A | ENSP00000410815.1:n.1571-140T>A | |
| ENST00000460718.5:c.12T>A | ENSP00000417793.1:p.Asn4Lys | |
| ENST00000472581.1:n.259T>A | ||
| ENST00000475617.5:c.12T>A | ENSP00000420090.1:p.Asn4Lys | |
| ENST00000477310.1:c.1352-774T>A | ENSP00000418996.1:n.1352-774T>A | |
| NM_001710.5:c.12T>A , LRG_136t1:c.12T>A | NP_001701.2:p.Asn4Lys | |
| NM_001710.6:c.12T>A MANE Select | NP_001701.2:p.Asn4Lys |