Linked Data
gnomAD v4:
4-52029684-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52029684G>T , CM000666.2:g.52029684G>T | GRCh38 |
| NC_000004.11:g.52895850G>T , CM000666.1:g.52895850G>T | GRCh37 |
| NC_000004.10:g.52590607G>T | NCBI36 |
| NG_008891.1:g.13636C>A , LRG_204:g.13636C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.423C>A MANE Select | ENSP00000370839.6:p.Asn141Lys | |
| ENST00000381431.9:c.423C>A | ENSP00000370839.5:p.Asn141Lys | |
| ENST00000506357.5:c.506C>A | ||
| ENST00000514133.1:c.500C>A | ENSP00000425818.1:n.500C>A | |
| NM_000232.4:c.423C>A , LRG_204t1:c.423C>A | NP_000223.1:p.Asn141Lys | |
| XM_006714049.2:c.126C>A | XP_006714112.1:p.Asn42Lys | |
| XM_011534403.1:c.213C>A | XP_011532705.1:p.Asn71Lys | |
| XM_011534404.1:c.126C>A | XP_011532706.1:p.Asn42Lys | |
| NM_000232.5:c.423C>A MANE Select | NP_000223.1:p.Asn141Lys |