Linked Data
dbSNP Id:
rs10487818
gnomAD v2:
7-105910061-A-T
gnomAD v3:
7-106269615-A-T
gnomAD v4:
7-106269615-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.106269615A>T , CM000669.2:g.106269615A>T | GRCh38 |
| NC_000007.13:g.105910061A>T , CM000669.1:g.105910061A>T | GRCh37 |
| NC_000007.12:g.105697297A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222553.8:c.448-303T>A MANE Select | ENSP00000222553.3:n.448-303T>A | |
| ENST00000354289.9:c.448-303T>A | ENSP00000346242.4:n.448-303T>A | |
| ENST00000393618.6:n.3515T>A | ||
| ENST00000424768.2:c.448-303T>A | ENSP00000390591.2:n.448-303T>A | |
| ENST00000484527.6:n.373-303T>A | ||
| ENST00000489732.2:n.2531-303T>A | ||
| ENST00000491027.6:c.187-303T>A | ENSP00000506343.1:n.187-303T>A | |
| ENST00000679461.1:n.1990-303T>A | ||
| ENST00000679643.1:c.187-303T>A | ENSP00000504962.1:n.187-303T>A | |
| ENST00000679717.1:n.547-303T>A | ||
| ENST00000679873.1:c.*225-303T>A | ENSP00000506282.1:n.*225-303T>A | |
| ENST00000679894.1:n.236-303T>A | ||
| ENST00000679951.1:c.448-303T>A | ENSP00000505427.1:n.448-303T>A | |
| ENST00000680077.1:c.*297-303T>A | ENSP00000506239.1:n.*297-303T>A | |
| ENST00000680129.1:c.*122-303T>A | ENSP00000504872.1:n.*122-303T>A | |
| ENST00000680152.1:c.448-303T>A | ENSP00000505353.1:n.448-303T>A | |
| ENST00000680468.1:c.448-303T>A | ENSP00000505172.1:n.448-303T>A | |
| ENST00000680516.1:n.708T>A | ||
| ENST00000680584.1:c.445-303T>A | ENSP00000505012.1:n.445-303T>A | |
| ENST00000680669.1:n.3449T>A | ||
| ENST00000680675.1:c.*225-303T>A | ENSP00000506337.1:n.*225-303T>A | |
| ENST00000680708.1:c.*63-303T>A | ENSP00000506527.1:n.*63-303T>A | |
| ENST00000680786.1:c.250-303T>A | ENSP00000505453.1:n.250-303T>A | |
| ENST00000680823.1:c.-654-303T>A | ENSP00000506618.1:n.-654-303T>A | |
| ENST00000680864.1:c.448-303T>A | ENSP00000505845.1:n.448-303T>A | |
| ENST00000680991.1:c.448-303T>A | ENSP00000506283.1:n.448-303T>A | |
| ENST00000681223.1:c.448-303T>A | ENSP00000505065.1:n.448-303T>A | |
| ENST00000681255.1:c.448-303T>A | ENSP00000506129.1:n.448-303T>A | |
| ENST00000681297.1:n.2365T>A | ||
| ENST00000681391.1:c.448-303T>A | ENSP00000505390.1:n.448-303T>A | |
| ENST00000681456.1:c.*262-303T>A | ENSP00000505633.1:n.*262-303T>A | |
| ENST00000681491.1:c.448-303T>A | ENSP00000506540.1:n.448-303T>A | |
| ENST00000681494.1:c.*112-303T>A | ENSP00000506450.1:n.*112-303T>A | |
| ENST00000681550.1:c.-654-303T>A | ENSP00000505112.1:n.-654-303T>A | |
| ENST00000681653.1:c.448-303T>A | ENSP00000506565.1:n.448-303T>A | |
| ENST00000681878.1:c.439-303T>A | ENSP00000505577.1:n.439-303T>A | |
| ENST00000681887.1:n.414-303T>A | ||
| ENST00000681936.1:c.-654-303T>A | ENSP00000504973.1:n.-654-303T>A | |
| ENST00000222553.7:c.448-303T>A | ENSP00000222553.3:n.448-303T>A | |
| ENST00000354289.8:c.448-303T>A | ENSP00000346242.4:n.448-303T>A | |
| ENST00000484527.5:n.676-303T>A | ||
| ENST00000491027.5:n.254-303T>A | ||
| NM_005746.2:c.448-303T>A | NP_005737.1:n.448-303T>A | |
| XM_005250100.1:c.448-303T>A | XP_005250157.1:n.448-303T>A | |
| XM_011515707.1:c.448-303T>A | XP_011514009.1:n.448-303T>A | |
| NM_005746.3:c.448-303T>A MANE Select | NP_005737.1:n.448-303T>A |