Linked Data
dbSNP Id:
rs1443663020
gnomAD v2:
9-139412611-C-T
gnomAD v3:
9-136518159-C-T
gnomAD v4:
9-136518159-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136518159C>T , CM000671.2:g.136518159C>T | GRCh38 |
| NC_000009.11:g.139412611C>T , CM000671.1:g.139412611C>T | GRCh37 |
| NC_000009.10:g.138532432C>T | NCBI36 |
| NG_007458.1:g.32628G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.1233G>A MANE Select | ENSP00000498587.1:p.Gln411= | |
| ENST00000679595.1:c.1233G>A | ENSP00000506241.1:p.Gln411= | |
| ENST00000680133.1:c.1233G>A | ENSP00000505319.1:p.Gln411= | |
| ENST00000680218.1:c.1233G>A | ENSP00000505339.1:p.Gln411= | |
| ENST00000680668.1:c.1233G>A | ENSP00000506336.1:p.Gln411= | |
| ENST00000680924.1:c.1233G>A | ENSP00000506031.1:p.Gln411= | |
| ENST00000681135.1:c.1233G>A | ENSP00000506636.1:p.Gln411= | |
| ENST00000681454.1:c.*469G>A | ENSP00000505763.1:n.*469G>A | |
| ENST00000277541.6:c.1233G>A | ENSP00000277541.6:p.Gln411= | |
| NM_017617.3:c.1233G>A | NP_060087.3:p.Gln411= | |
| XM_011518717.1:c.534G>A | XP_011517019.1:p.Gln178= | |
| NM_017617.5:c.1233G>A MANE Select | NP_060087.3:p.Gln411= | |
| XM_011518717.2:c.510G>A | XP_011517019.2:p.Gln170= |