Linked Data
dbSNP Id:
rs755078133
ExAC:
4:6303424 G / T
gnomAD v2:
4-6303424-G-T
gnomAD v4:
4-6301697-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301697G>T , CM000666.2:g.6301697G>T | GRCh38 |
| NC_000004.11:g.6303424G>T , CM000666.1:g.6303424G>T | GRCh37 |
| NC_000004.10:g.6354325G>T | NCBI36 |
| NG_011700.1:g.36848G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1938G>T | ENSP00000507852.1:p.Lys646Asn | |
| ENST00000683395.1:c.1879G>T | ||
| ENST00000684087.1:c.1902G>T | ENSP00000506978.1:p.Lys634Asn | |
| ENST00000506362.2:c.1653G>T | ENSP00000424103.2:p.Lys551Asn | |
| ENST00000673642.1:c.1561G>T | ENSP00000501242.1:n.1561G>T | |
| ENST00000673991.1:c.1938G>T | ENSP00000501033.1:p.Lys646Asn | |
| ENST00000226760.5:c.1902G>T MANE Select | ENSP00000226760.1:p.Lys634Asn | |
| ENST00000503569.5:c.1902G>T | ENSP00000423337.1:p.Lys634Asn | |
| ENST00000507765.1:n.2087G>T | ||
| NM_001145853.1:c.1902G>T | NP_001139325.1:p.Lys634Asn | |
| NM_006005.3:c.1902G>T MANE Select | NP_005996.2:p.Lys634Asn | |
| XM_017008586.1:c.1911G>T | XP_016864075.1:p.Lys637Asn |