Linked Data
dbSNP Id:
rs16930692
gnomAD v2:
12-26586006-A-C
gnomAD v3:
12-26433073-A-C
gnomAD v4:
12-26433073-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.26433073A>C , CM000674.2:g.26433073A>C | GRCh38 |
| NC_000012.11:g.26586006A>C , CM000674.1:g.26586006A>C | GRCh37 |
| NC_000012.10:g.26477273A>C | NCBI36 |
| NG_042142.1:g.405126T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381340.8:c.6769+3148T>G MANE Select | ENSP00000370744.3:n.6769+3148T>G | |
| ENST00000381340.7:c.6769+3148T>G | ENSP00000370744.3:n.6769+3148T>G | |
| ENST00000451599.6:c.1597+3148T>G | ENSP00000408287.2:n.1597+3148T>G | |
| NM_002223.2:c.6769+3148T>G | NP_002214.2:n.6769+3148T>G | |
| NM_002223.3:c.6769+3148T>G | NP_002214.2:n.6769+3148T>G | |
| XM_011520645.1:c.6217+3148T>G | XP_011518947.1:n.6217+3148T>G | |
| XM_011520646.1:c.5836+3148T>G | XP_011518948.1:n.5836+3148T>G | |
| XM_017019266.1:c.6829+3148T>G | XP_016874755.1:n.6829+3148T>G | |
| XM_017019267.1:c.6763+3148T>G | XP_016874756.1:n.6763+3148T>G | |
| XR_001748686.2:n.7245+3148T>G | ||
| NM_002223.4:c.6769+3148T>G MANE Select | NP_002214.2:n.6769+3148T>G |