Linked Data
dbSNP Id:
rs1174853043
gnomAD v2:
8-65537006-T-G
gnomAD v3:
8-64624449-T-G
gnomAD v4:
8-64624449-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64624449T>G , CM000670.2:g.64624449T>G | GRCh38 |
| NC_000008.10:g.65537006T>G , CM000670.1:g.65537006T>G | GRCh37 |
| NC_000008.9:g.65699560T>G | NCBI36 |
| NG_008338.1:g.179343A>C | |
| NG_008338.2:g.179343A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.213A>C MANE Select | ENSP00000310721.3:p.Lys71Asn | |
| ENST00000310193.3:c.213A>C | ENSP00000310721.3:p.Lys71Asn | |
| NM_004820.3:c.213A>C | NP_004811.1:p.Lys71Asn | |
| NM_001324112.1:c.213A>C | NP_001311041.1:p.Lys71Asn | |
| NM_004820.4:c.213A>C | NP_004811.1:p.Lys71Asn | |
| XM_017014002.1:c.279A>C | XP_016869491.1:p.Lys93Asn | |
| NM_004820.5:c.213A>C MANE Select | NP_004811.1:p.Lys71Asn | |
| NM_001324112.2:c.213A>C | NP_001311041.1:p.Lys71Asn |