Linked Data
dbSNP Id:
rs893907710
gnomAD v2:
7-24331046-G-C
gnomAD v3:
7-24291427-G-C
gnomAD v4:
7-24291427-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24291427G>C , CM000669.2:g.24291427G>C | GRCh38 |
| NC_000007.13:g.24331046G>C , CM000669.1:g.24331046G>C | GRCh37 |
| NC_000007.12:g.24297571G>C | NCBI36 |
| NG_016148.1:g.12240G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242152.7:c.270-236G>C MANE Select | ENSP00000242152.2:n.270-236G>C | |
| ENST00000242152.6:c.270-236G>C | ENSP00000242152.2:n.270-236G>C | |
| ENST00000405982.1:c.270-236G>C | ENSP00000385282.1:n.270-236G>C | |
| ENST00000407573.5:c.270-236G>C | ENSP00000384364.1:n.270-236G>C | |
| NM_000905.3:c.270-236G>C | NP_000896.1:n.270-236G>C | |
| XM_017012910.1:c.41+27930C>G | XP_016868399.1:n.41+27930C>G | |
| XM_017012911.1:c.41+27930C>G | XP_016868400.1:n.41+27930C>G | |
| XR_001745121.1:n.473+27930C>G | ||
| XR_001745122.1:n.345-94398C>G | ||
| XR_001745123.1:n.473+27930C>G | ||
| XR_001745124.1:n.473+27930C>G | ||
| XR_001745125.1:n.473+27930C>G | ||
| XR_001745126.1:n.473+27930C>G | ||
| XR_001745127.1:n.345-35728C>G | ||
| XR_001745129.1:n.473+27930C>G | ||
| XR_001745130.1:n.473+27930C>G | ||
| XR_001745131.1:n.473+27930C>G | ||
| XR_001745132.1:n.473+27930C>G | ||
| NM_000905.4:c.270-236G>C MANE Select | NP_000896.1:n.270-236G>C |