Linked Data
dbSNP Id:
rs867553601
gnomAD v2:
3-10190278-G-T
gnomAD v3:
3-10148594-G-T
gnomAD v4:
3-10148594-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10148594G>T , CM000665.2:g.10148594G>T | GRCh38 |
| NC_000003.11:g.10190278G>T , CM000665.1:g.10190278G>T | GRCh37 |
| NC_000003.10:g.10165278G>T | NCBI36 |
| NG_008212.3:g.11960G>T , LRG_322:g.11960G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*141-1193G>T | ENSP00000512434.1:n.*141-1193G>T | |
| ENST00000696143.1:c.600-1193G>T | ENSP00000512435.1:n.600-1193G>T | |
| ENST00000696153.1:c.464-110G>T | ENSP00000512444.1:n.464-110G>T | |
| ENST00000256474.3:c.464-1193G>T MANE Select | ENSP00000256474.3:n.464-1193G>T | |
| ENST00000256474.2:c.464-1193G>T | ENSP00000256474.2:n.464-1193G>T | |
| ENST00000345392.2:c.341-1193G>T | ENSP00000344757.2:n.341-1193G>T | |
| ENST00000477538.1:n.600-1193G>T | ||
| NM_000551.3:c.464-1193G>T , LRG_322t1:c.464-1193G>T | NP_000542.1:n.464-1193G>T | |
| NM_198156.2:c.341-1193G>T | NP_937799.1:n.341-1193G>T | |
| NM_001354723.1:c.*18-1193G>T | NP_001341652.1:n.*18-1193G>T | |
| NM_000551.4:c.464-1193G>T MANE Select | NP_000542.1:n.464-1193G>T | |
| NM_001354723.2:c.*18-1193G>T | NP_001341652.1:n.*18-1193G>T | |
| NM_198156.3:c.341-1193G>T | NP_937799.1:n.341-1193G>T |