Linked Data
dbSNP Id:
rs768351752
ExAC:
9:139391660 C / T
gnomAD v2:
9-139391660-C-T
gnomAD v4:
9-136497208-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136497208C>T , CM000671.2:g.136497208C>T | GRCh38 |
| NC_000009.11:g.139391660C>T , CM000671.1:g.139391660C>T | GRCh37 |
| NC_000009.10:g.138511481C>T | NCBI36 |
| NG_007458.1:g.53579G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6531G>A MANE Select | ENSP00000498587.1:p.Lys2177= | |
| ENST00000679595.1:c.*1571G>A | ENSP00000506241.1:n.*1571G>A | |
| ENST00000679969.1:n.3127G>A | ||
| ENST00000680003.1:n.2863G>A | ||
| ENST00000680133.1:c.6417G>A | ENSP00000505319.1:p.Lys2139= | |
| ENST00000680218.1:c.6411G>A | ENSP00000505339.1:p.Lys2137= | |
| ENST00000680668.1:c.6417G>A | ENSP00000506336.1:p.Lys2139= | |
| ENST00000680778.1:c.4128G>A | ENSP00000506033.1:p.Lys1376= | |
| ENST00000680924.1:c.*3931G>A | ENSP00000506031.1:n.*3931G>A | |
| ENST00000681135.1:c.*4140G>A | ENSP00000506636.1:n.*4140G>A | |
| ENST00000681298.1:n.4636G>A | ||
| ENST00000681454.1:c.*5767G>A | ENSP00000505763.1:n.*5767G>A | |
| ENST00000277541.6:c.6531G>A | ENSP00000277541.6:p.Lys2177= | |
| NM_017617.3:c.6531G>A | NP_060087.3:p.Lys2177= | |
| XM_011518717.1:c.5832G>A | XP_011517019.1:p.Lys1944= | |
| NM_017617.5:c.6531G>A MANE Select | NP_060087.3:p.Lys2177= | |
| XM_011518717.2:c.5808G>A | XP_011517019.2:p.Lys1936= |