Linked Data
dbSNP Id:
rs917255095
gnomAD v2:
4-6293387-G-C
gnomAD v3:
4-6291660-G-C
gnomAD v4:
4-6291660-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6291660G>C , CM000666.2:g.6291660G>C | GRCh38 |
| NC_000004.11:g.6293387G>C , CM000666.1:g.6293387G>C | GRCh37 |
| NC_000004.10:g.6344288G>C | NCBI36 |
| NG_011700.1:g.26811G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682275.1:c.632-257G>C | ENSP00000507852.1:n.632-257G>C | |
| ENST00000683395.1:c.609-257G>C | ||
| ENST00000684087.1:c.632-257G>C | ENSP00000506978.1:n.632-257G>C | |
| ENST00000506362.2:c.383-257G>C | ENSP00000424103.2:n.383-257G>C | |
| ENST00000673642.1:c.431-257G>C | ENSP00000501242.1:n.431-257G>C | |
| ENST00000673991.1:c.632-257G>C | ENSP00000501033.1:n.632-257G>C | |
| ENST00000226760.5:c.632-257G>C MANE Select | ENSP00000226760.1:n.632-257G>C | |
| ENST00000503569.5:c.632-257G>C | ENSP00000423337.1:n.632-257G>C | |
| ENST00000506362.1:c.229-257G>C | ||
| ENST00000507765.1:n.817-257G>C | ||
| NM_001145853.1:c.632-257G>C | NP_001139325.1:n.632-257G>C | |
| NM_006005.3:c.632-257G>C MANE Select | NP_005996.2:n.632-257G>C | |
| XM_017008586.1:c.641-257G>C | XP_016864075.1:n.641-257G>C |