Linked Data
dbSNP Id:
rs775769582
ExAC:
5:90041489 A / C
gnomAD v2:
5-90041489-A-C
gnomAD v4:
5-90745672-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90745672A>C , CM000667.2:g.90745672A>C | GRCh38 |
| NC_000005.9:g.90041489A>C , CM000667.1:g.90041489A>C | GRCh37 |
| NC_000005.8:g.90077245A>C | NCBI36 |
| NG_007083.1:g.191873A>C | |
| NG_007083.2:g.221329A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.10851A>C MANE Select | ENSP00000384582.2:p.Lys3617Asn | |
| ENST00000639431.1:c.265+69463A>C | ENSP00000491057.1:n.265+69463A>C | |
| ENST00000640374.1:n.3995A>C | ||
| ENST00000640464.1:n.1270A>C | ||
| ENST00000405460.6:c.10851A>C | ENSP00000384582.2:p.Lys3617Asn | |
| ENST00000509621.1:c.3548A>C | ||
| NM_032119.3:c.10851A>C | NP_115495.3:p.Lys3617Asn | |
| NR_003149.1:n.10864A>C | ||
| XM_011543675.1:c.10848A>C | XP_011541977.1:p.Lys3616Asn | |
| XM_011543676.1:c.10770A>C | XP_011541978.1:p.Lys3590Asn | |
| XM_011543677.1:c.8154A>C | XP_011541979.1:p.Lys2718Asn | |
| XM_011543678.1:c.10851A>C | XP_011541980.1:p.Lys3617Asn | |
| XM_011543679.1:c.*73A>C | XP_011541981.1:n.*73A>C | |
| NM_032119.4:c.10851A>C MANE Select | NP_115495.3:p.Lys3617Asn | |
| XM_017009963.2:c.10872A>C | XP_016865452.1:p.Lys3624Asn | |
| XM_017009964.2:c.10869A>C | XP_016865453.1:p.Lys3623Asn | |
| XM_017009965.1:c.10869A>C | XP_016865454.1:p.Lys3623Asn | |
| XM_017009966.2:c.10791A>C | XP_016865455.1:p.Lys3597Asn | |
| XM_017009967.1:c.10776A>C | XP_016865456.1:p.Lys3592Asn | |
| XM_017009968.2:c.10872A>C | XP_016865457.1:p.Lys3624Asn | |
| XM_017009969.2:c.10872A>C | XP_016865458.1:p.Lys3624Asn | |
| XM_017009970.2:c.10872A>C | XP_016865459.1:p.Lys3624Asn | |
| XM_017009971.2:c.10872A>C | XP_016865460.1:p.Lys3624Asn | |
| XM_017009972.1:c.3990A>C | XP_016865461.1:p.Lys1330Asn | |
| XM_017009973.1:c.3969A>C | XP_016865462.1:p.Lys1323Asn | |
| XM_017009974.2:c.*73A>C | XP_016865463.1:n.*73A>C | |
| NR_003149.2:n.10867A>C |