Linked Data
dbSNP Id:
rs13414205
gnomAD v2:
2-44662475-C-T
gnomAD v3:
2-44435336-C-T
gnomAD v4:
2-44435336-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44435336C>T , CM000664.2:g.44435336C>T | GRCh38 |
| NC_000002.11:g.44662475C>T , CM000664.1:g.44662475C>T | GRCh37 |
| NC_000002.10:g.44515979C>T | NCBI36 |
| NG_032944.1:g.78433C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378494.8:c.376+45031C>T MANE Select | ENSP00000367755.3:n.376+45031C>T | |
| ENST00000378494.7:c.376+45031C>T | ENSP00000367755.3:n.376+45031C>T | |
| ENST00000402247.5:c.376+45031C>T | ENSP00000385587.1:n.376+45031C>T | |
| ENST00000403853.7:c.377-21232C>T | ENSP00000385124.3:n.377-21232C>T | |
| ENST00000407131.5:c.376+45031C>T | ENSP00000384039.1:n.376+45031C>T | |
| ENST00000428993.1:c.206+45031C>T | ||
| NM_024766.4:c.376+45031C>T | NP_079042.1:n.376+45031C>T | |
| XM_011533111.1:c.376+45031C>T | XP_011531413.1:n.376+45031C>T | |
| XM_011533112.1:c.376+45031C>T | XP_011531414.1:n.376+45031C>T | |
| XR_939721.1:n.446+45031C>T | ||
| XR_939722.1:n.446+45031C>T | ||
| XR_939723.1:n.446+45031C>T | ||
| XM_011533111.2:c.376+45031C>T | XP_011531413.1:n.376+45031C>T | |
| XM_017004971.1:c.661+45031C>T | XP_016860460.1:n.661+45031C>T | |
| XM_017004975.1:c.662-6605C>T | XP_016860464.1:n.662-6605C>T | |
| XM_017004976.1:c.661+45031C>T | XP_016860465.1:n.661+45031C>T | |
| XM_017004977.1:c.662-21232C>T | XP_016860466.1:n.662-21232C>T | |
| XM_017004978.1:c.662-21232C>T | XP_016860467.1:n.662-21232C>T | |
| XM_017004980.1:c.662-40445C>T | XP_016860469.1:n.662-40445C>T | |
| XM_017004981.1:c.662-8256C>T | XP_016860470.1:n.662-8256C>T | |
| XR_001738949.2:n.446+45031C>T | ||
| XR_001738950.1:n.670+45031C>T | ||
| XR_001738953.1:n.671-6605C>T | ||
| XR_939722.2:n.446+45031C>T | ||
| NM_024766.5:c.376+45031C>T MANE Select | NP_079042.1:n.376+45031C>T |