Linked Data
dbSNP Id:
rs375907956
ExAC:
5:89979885 T / C
gnomAD v2:
5-89979885-T-C
gnomAD v3:
5-90684068-T-C
gnomAD v4:
5-90684068-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90684068T>C , CM000667.2:g.90684068T>C | GRCh38 |
| NC_000005.9:g.89979885T>C , CM000667.1:g.89979885T>C | GRCh37 |
| NC_000005.8:g.90015641T>C | NCBI36 |
| NG_007083.1:g.130269T>C | |
| NG_007083.2:g.159725T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.6147T>C MANE Select | ENSP00000384582.2:p.Phe2049= | |
| ENST00000639431.1:c.265+7859T>C | ENSP00000491057.1:n.265+7859T>C | |
| ENST00000639473.1:n.1606T>C | ||
| ENST00000640012.1:c.165-1712T>C | ||
| ENST00000640403.1:c.3438T>C | ENSP00000492531.1:p.Phe1146= | |
| ENST00000640779.1:c.959T>C | ||
| ENST00000405460.6:c.6147T>C | ENSP00000384582.2:p.Phe2049= | |
| NM_032119.3:c.6147T>C | NP_115495.3:p.Phe2049= | |
| NR_003149.1:n.6243T>C | ||
| XM_011543675.1:c.6144T>C | XP_011541977.1:p.Phe2048= | |
| XM_011543676.1:c.6066T>C | XP_011541978.1:p.Phe2022= | |
| XM_011543677.1:c.3450T>C | XP_011541979.1:p.Phe1150= | |
| XM_011543678.1:c.6147T>C | XP_011541980.1:p.Phe2049= | |
| XM_011543679.1:c.6147T>C | XP_011541981.1:p.Phe2049= | |
| NM_032119.4:c.6147T>C MANE Select | NP_115495.3:p.Phe2049= | |
| XM_017009963.2:c.6147T>C | XP_016865452.1:p.Phe2049= | |
| XM_017009964.2:c.6144T>C | XP_016865453.1:p.Phe2048= | |
| XM_017009965.1:c.6144T>C | XP_016865454.1:p.Phe2048= | |
| XM_017009966.2:c.6066T>C | XP_016865455.1:p.Phe2022= | |
| XM_017009967.1:c.6051T>C | XP_016865456.1:p.Phe2017= | |
| XM_017009968.2:c.6147T>C | XP_016865457.1:p.Phe2049= | |
| XM_017009969.2:c.6147T>C | XP_016865458.1:p.Phe2049= | |
| XM_017009970.2:c.6147T>C | XP_016865459.1:p.Phe2049= | |
| XM_017009971.2:c.6147T>C | XP_016865460.1:p.Phe2049= | |
| XM_017009973.1:c.-653T>C | XP_016865462.1:n.-653T>C | |
| XM_017009974.2:c.6147T>C | XP_016865463.1:p.Phe2049= | |
| NR_003149.2:n.6246T>C |