Linked Data
dbSNP Id:
rs761764013
ExAC:
1:43394953 C / G
gnomAD v2:
1-43394953-C-G
gnomAD v4:
1-42929282-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929282C>G , CM000663.2:g.42929282C>G | GRCh38 |
| NC_000001.10:g.43394953C>G , CM000663.1:g.43394953C>G | GRCh37 |
| NC_000001.9:g.43167540C>G | NCBI36 |
| NG_008232.1:g.34895G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.900G>C MANE Select | ENSP00000416293.2:p.Lys300Asn | |
| ENST00000674545.1:n.218G>C | ||
| ENST00000674765.1:c.900G>C | ENSP00000501811.1:p.Lys300Asn | |
| ENST00000675112.1:n.1201G>C | ||
| ENST00000676254.1:n.1349G>C | ||
| ENST00000426263.7:c.900G>C | ENSP00000416293.2:p.Lys300Asn | |
| ENST00000439722.2:c.779G>C | ENSP00000395521.2:n.779G>C | |
| ENST00000475162.3:c.415+1344G>C | ||
| ENST00000630287.2:c.*215G>C | ENSP00000486694.1:n.*215G>C | |
| NM_006516.2:c.900G>C | NP_006507.2:p.Lys300Asn | |
| NM_006516.3:c.900G>C | NP_006507.2:p.Lys300Asn | |
| NM_006516.4:c.900G>C MANE Select | NP_006507.2:p.Lys300Asn |