Linked Data
dbSNP Id:
rs12194855
gnomAD v2:
6-6288242-A-G
gnomAD v3:
6-6288009-A-G
gnomAD v4:
6-6288009-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6288009A>G , CM000668.2:g.6288009A>G | GRCh38 |
| NC_000006.11:g.6288242A>G , CM000668.1:g.6288242A>G | GRCh37 |
| NC_000006.10:g.6233241A>G | NCBI36 |
| NG_008107.1:g.37683T>C , LRG_549:g.37683T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264870.8:c.319+17342T>C MANE Select | ENSP00000264870.3:n.319+17342T>C | |
| ENST00000264870.7:c.319+17342T>C | ENSP00000264870.3:n.319+17342T>C | |
| ENST00000414279.5:c.319+17342T>C | ENSP00000413334.1:n.319+17342T>C | |
| ENST00000431222.6:c.481+17342T>C | ENSP00000416295.2:n.481+17342T>C | |
| ENST00000479211.1:n.304+17342T>C | ||
| NM_000129.3:c.319+17342T>C , LRG_549t1:c.319+17342T>C | NP_000120.2:n.319+17342T>C | |
| XM_006715010.2:c.319+17342T>C | XP_006715073.1:n.319+17342T>C | |
| XM_011514342.1:c.481+17342T>C | XP_011512644.1:n.481+17342T>C | |
| NM_000129.4:c.319+17342T>C MANE Select | NP_000120.2:n.319+17342T>C |