Linked Data
gnomAD v4:
12-66211319-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66211319T>G , CM000674.2:g.66211319T>G | GRCh38 |
| NC_000012.11:g.66605099T>G , CM000674.1:g.66605099T>G | GRCh37 |
| NC_000012.10:g.64891366T>G | NCBI36 |
| NG_021194.1:g.27122T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261233.9:c.437-127T>G MANE Select | ENSP00000261233.4:n.437-127T>G | |
| ENST00000261233.8:c.437-127T>G | ENSP00000261233.4:n.437-127T>G | |
| ENST00000457197.2:c.254-127T>G | ENSP00000409852.2:n.254-127T>G | |
| NM_001142523.1:c.254-127T>G | NP_001135995.1:n.254-127T>G | |
| NM_007199.2:c.437-127T>G | NP_009130.2:n.437-127T>G | |
| NM_001142523.2:c.254-127T>G | NP_001135995.1:n.254-127T>G | |
| NM_007199.3:c.437-127T>G MANE Select | NP_009130.2:n.437-127T>G |