Linked Data
gnomAD v4:
9-136674748-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136674748C>G , CM000671.2:g.136674748C>G | GRCh38 |
| NC_000009.11:g.139569200C>G , CM000671.1:g.139569200C>G | GRCh37 |
| NC_000009.10:g.138689021C>G | NCBI36 |
| NG_008090.1:g.17712G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.648G>C MANE Select | ENSP00000360761.2:p.Lys216Asn | |
| ENST00000371694.7:c.552G>C | ENSP00000360759.3:p.Lys184Asn | |
| ENST00000371696.6:c.648G>C | ENSP00000360761.2:p.Lys216Asn | |
| ENST00000472820.1:n.576G>C | ||
| ENST00000538402.1:c.648G>C | ENSP00000438919.1:p.Lys216Asn | |
| NM_001012727.1:c.552G>C | NP_001012745.1:p.Lys184Asn | |
| NM_006412.3:c.648G>C | NP_006403.2:p.Lys216Asn | |
| NM_006412.4:c.648G>C MANE Select | NP_006403.2:p.Lys216Asn | |
| NM_001012727.2:c.552G>C | NP_001012745.1:p.Lys184Asn |