Linked Data
dbSNP Id:
rs12199015
gnomAD v2:
6-132058947-A-G
gnomAD v3:
6-131737807-A-G
gnomAD v4:
6-131737807-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131737807A>G , CM000668.2:g.131737807A>G | GRCh38 |
| NC_000006.11:g.132058947A>G , CM000668.1:g.132058947A>G | GRCh37 |
| NC_000006.10:g.132100640A>G | NCBI36 |
| NG_033982.1:g.105506A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357639.8:c.2168-224A>G MANE Select | ENSP00000350265.3:n.2168-224A>G | |
| ENST00000357639.7:c.2168-224A>G | ENSP00000350265.3:n.2168-224A>G | |
| ENST00000358229.6:c.*40-224A>G | ENSP00000350964.5:n.*40-224A>G | |
| ENST00000414305.5:c.2168-224A>G | ENSP00000406261.1:n.2168-224A>G | |
| NM_005021.3:c.2168-224A>G | NP_005012.2:n.2168-224A>G | |
| NM_005021.4:c.2168-224A>G | NP_005012.2:n.2168-224A>G | |
| NR_133007.1:n.2182-224A>G | ||
| XM_011535897.1:c.1406-224A>G | XP_011534199.1:n.1406-224A>G | |
| XM_017010932.1:c.1937-224A>G | XP_016866421.1:n.1937-224A>G | |
| XR_001743464.2:n.2366-224A>G | ||
| NM_005021.5:c.2168-224A>G MANE Select | NP_005012.2:n.2168-224A>G | |
| NR_133007.2:n.2115-224A>G |