Linked Data
dbSNP Id:
rs1237135203
gnomAD v2:
6-35782411-G-C
gnomAD v3:
6-35814634-G-C
gnomAD v4:
6-35814634-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35814634G>C , CM000668.2:g.35814634G>C | GRCh38 |
| NC_000006.11:g.35782411G>C , CM000668.1:g.35782411G>C | GRCh37 |
| NC_000006.10:g.35890389G>C | NCBI36 |
| NG_012184.1:g.14341G>C | |
| NG_012184.2:g.14341G>C | |
| NG_012184.3:g.22429G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360215.3:c.501G>C MANE Select | ENSP00000353346.1:p.Lys167Asn | |
| ENST00000496656.2:n.280G>C | ||
| ENST00000651132.1:c.501G>C | ENSP00000498322.1:p.Lys167Asn | |
| ENST00000651676.1:c.501G>C | ENSP00000498699.1:p.Lys167Asn | |
| ENST00000651994.1:c.*70-4803G>C | ENSP00000498310.1:n.*70-4803G>C | |
| ENST00000652718.1:c.333G>C | ENSP00000498866.1:p.Lys111Asn | |
| ENST00000360215.2:c.501G>C | ENSP00000353346.1:p.Lys167Asn | |
| ENST00000496656.1:n.280G>C | ||
| NM_182548.3:c.501G>C | NP_872354.1:p.Lys167Asn | |
| XM_011514403.1:c.501G>C | XP_011512705.1:p.Lys167Asn | |
| NM_182548.4:c.501G>C MANE Select | NP_872354.1:p.Lys167Asn |