Linked Data
dbSNP Id:
rs746143437
ExAC:
5:90119200 T / C
gnomAD v2:
5-90119200-T-C
gnomAD v4:
5-90823383-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90823383T>C , CM000667.2:g.90823383T>C | GRCh38 |
| NC_000005.9:g.90119200T>C , CM000667.1:g.90119200T>C | GRCh37 |
| NC_000005.8:g.90154956T>C | NCBI36 |
| NG_007083.1:g.269584T>C | |
| NG_007083.2:g.299040T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.16197-42T>C MANE Select | ENSP00000384582.2:n.16197-42T>C | |
| ENST00000425867.3:c.5151-42T>C | ENSP00000392618.3:n.5151-42T>C | |
| ENST00000638510.1:n.3464-42T>C | ||
| ENST00000639431.1:c.265+147174T>C | ENSP00000491057.1:n.265+147174T>C | |
| ENST00000640061.1:n.128+1201T>C | ||
| ENST00000640407.1:c.2607-42T>C | ENSP00000491425.1:n.2607-42T>C | |
| ENST00000405460.6:c.16197-42T>C | ENSP00000384582.2:n.16197-42T>C | |
| ENST00000425867.2:c.3180-42T>C | ENSP00000392618.2:n.3180-42T>C | |
| NM_032119.3:c.16197-42T>C | NP_115495.3:n.16197-42T>C | |
| NR_003149.1:n.16210-42T>C | ||
| XM_011543675.1:c.16194-42T>C | XP_011541977.1:n.16194-42T>C | |
| XM_011543676.1:c.16116-42T>C | XP_011541978.1:n.16116-42T>C | |
| XM_011543677.1:c.13500-42T>C | XP_011541979.1:n.13500-42T>C | |
| NM_032119.4:c.16197-42T>C MANE Select | NP_115495.3:n.16197-42T>C | |
| XM_017009963.2:c.16218-42T>C | XP_016865452.1:n.16218-42T>C | |
| XM_017009964.2:c.16215-42T>C | XP_016865453.1:n.16215-42T>C | |
| XM_017009965.1:c.16215-42T>C | XP_016865454.1:n.16215-42T>C | |
| XM_017009966.2:c.16137-42T>C | XP_016865455.1:n.16137-42T>C | |
| XM_017009967.1:c.16122-42T>C | XP_016865456.1:n.16122-42T>C | |
| XM_017009968.2:c.16038-42T>C | XP_016865457.1:n.16038-42T>C | |
| XM_017009969.2:c.16218-42T>C | XP_016865458.1:n.16218-42T>C | |
| XM_017009972.1:c.9336-42T>C | XP_016865461.1:n.9336-42T>C | |
| XM_017009973.1:c.9315-42T>C | XP_016865462.1:n.9315-42T>C | |
| NR_003149.2:n.16213-42T>C |