Linked Data
dbSNP Id:
rs1244549737
gnomAD v2:
3-10194356-A-T
gnomAD v3:
3-10152672-A-T
gnomAD v4:
3-10152672-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10152672A>T , CM000665.2:g.10152672A>T | GRCh38 |
| NC_000003.11:g.10194356A>T , CM000665.1:g.10194356A>T | GRCh37 |
| NC_000003.10:g.10169356A>T | NCBI36 |
| NG_008212.3:g.16038A>T , LRG_322:g.16038A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696153.1:c.*2707A>T | ENSP00000512444.1:n.*2707A>T | |
| ENST00000256474.3:c.*2707A>T MANE Select | ENSP00000256474.3:n.*2707A>T | |
| NM_000551.3:c.*2707A>T , LRG_322t1:c.*2707A>T | NP_000542.1:n.*2707A>T | |
| NM_198156.2:c.*2707A>T | NP_937799.1:n.*2707A>T | |
| NM_001354723.1:c.*2903A>T | NP_001341652.1:n.*2903A>T | |
| NM_000551.4:c.*2707A>T MANE Select | NP_000542.1:n.*2707A>T | |
| NM_001354723.2:c.*2903A>T | NP_001341652.1:n.*2903A>T | |
| NM_198156.3:c.*2707A>T | NP_937799.1:n.*2707A>T |