Linked Data
dbSNP Id:
rs73179321
ExAC:
5:90119198 G / T
gnomAD v2:
5-90119198-G-T
gnomAD v4:
5-90823381-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90823381G>T , CM000667.2:g.90823381G>T | GRCh38 |
| NC_000005.9:g.90119198G>T , CM000667.1:g.90119198G>T | GRCh37 |
| NC_000005.8:g.90154954G>T | NCBI36 |
| NG_007083.1:g.269582G>T | |
| NG_007083.2:g.299038G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.16197-44G>T MANE Select | ENSP00000384582.2:n.16197-44G>T | |
| ENST00000425867.3:c.5151-44G>T | ENSP00000392618.3:n.5151-44G>T | |
| ENST00000638510.1:n.3464-44G>T | ||
| ENST00000639431.1:c.265+147172G>T | ENSP00000491057.1:n.265+147172G>T | |
| ENST00000640061.1:n.128+1199G>T | ||
| ENST00000640407.1:c.2607-44G>T | ENSP00000491425.1:n.2607-44G>T | |
| ENST00000405460.6:c.16197-44G>T | ENSP00000384582.2:n.16197-44G>T | |
| ENST00000425867.2:c.3180-44G>T | ENSP00000392618.2:n.3180-44G>T | |
| NM_032119.3:c.16197-44G>T | NP_115495.3:n.16197-44G>T | |
| NR_003149.1:n.16210-44G>T | ||
| XM_011543675.1:c.16194-44G>T | XP_011541977.1:n.16194-44G>T | |
| XM_011543676.1:c.16116-44G>T | XP_011541978.1:n.16116-44G>T | |
| XM_011543677.1:c.13500-44G>T | XP_011541979.1:n.13500-44G>T | |
| NM_032119.4:c.16197-44G>T MANE Select | NP_115495.3:n.16197-44G>T | |
| XM_017009963.2:c.16218-44G>T | XP_016865452.1:n.16218-44G>T | |
| XM_017009964.2:c.16215-44G>T | XP_016865453.1:n.16215-44G>T | |
| XM_017009965.1:c.16215-44G>T | XP_016865454.1:n.16215-44G>T | |
| XM_017009966.2:c.16137-44G>T | XP_016865455.1:n.16137-44G>T | |
| XM_017009967.1:c.16122-44G>T | XP_016865456.1:n.16122-44G>T | |
| XM_017009968.2:c.16038-44G>T | XP_016865457.1:n.16038-44G>T | |
| XM_017009969.2:c.16218-44G>T | XP_016865458.1:n.16218-44G>T | |
| XM_017009972.1:c.9336-44G>T | XP_016865461.1:n.9336-44G>T | |
| XM_017009973.1:c.9315-44G>T | XP_016865462.1:n.9315-44G>T | |
| NR_003149.2:n.16213-44G>T |