Linked Data
dbSNP Id:
rs1030572287
gnomAD v2:
7-80532153-A-C
gnomAD v3:
7-80902837-A-C
gnomAD v4:
7-80902837-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.80902837A>C , CM000669.2:g.80902837A>C | GRCh38 |
| NC_000007.13:g.80532153A>C , CM000669.1:g.80532153A>C | GRCh37 |
| NC_000007.12:g.80370089A>C | NCBI36 |
| NG_054744.1:g.24543T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265361.8:c.103+13842T>G MANE Select | ENSP00000265361.3:n.103+13842T>G | |
| ENST00000265361.7:c.103+13842T>G | ENSP00000265361.3:n.103+13842T>G | |
| ENST00000411788.5:c.191+2992T>G | ENSP00000395398.1:n.191+2992T>G | |
| ENST00000419255.6:c.103+13842T>G | ENSP00000411193.2:n.103+13842T>G | |
| ENST00000427167.5:c.191+2992T>G | ENSP00000399891.1:n.191+2992T>G | |
| ENST00000458729.5:c.103+13842T>G | ENSP00000393825.1:n.103+13842T>G | |
| ENST00000487621.5:n.496+13842T>G | ||
| NM_006379.3:c.103+13842T>G | NP_006370.1:n.103+13842T>G | |
| XM_005250113.1:c.-72+2992T>G | XP_005250170.1:n.-72+2992T>G | |
| NM_001350120.1:c.157+13842T>G | NP_001337049.1:n.157+13842T>G | |
| NM_001350121.1:c.-72+2992T>G | NP_001337050.1:n.-72+2992T>G | |
| NM_006379.4:c.103+13842T>G | NP_006370.1:n.103+13842T>G | |
| NM_006379.5:c.103+13842T>G MANE Select | NP_006370.1:n.103+13842T>G | |
| NM_001350120.2:c.157+13842T>G | NP_001337049.1:n.157+13842T>G | |
| NM_001350121.2:c.-72+2992T>G | NP_001337050.1:n.-72+2992T>G |