Linked Data
dbSNP Id:
rs2293657
gnomAD v2:
12-66605006-A-T
gnomAD v3:
12-66211226-A-T
gnomAD v4:
12-66211226-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.66211226A>T , CM000674.2:g.66211226A>T | GRCh38 |
| NC_000012.11:g.66605006A>T , CM000674.1:g.66605006A>T | GRCh37 |
| NC_000012.10:g.64891273A>T | NCBI36 |
| NG_021194.1:g.27029A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261233.9:c.437-220A>T MANE Select | ENSP00000261233.4:n.437-220A>T | |
| ENST00000261233.8:c.437-220A>T | ENSP00000261233.4:n.437-220A>T | |
| ENST00000457197.2:c.254-220A>T | ENSP00000409852.2:n.254-220A>T | |
| NM_001142523.1:c.254-220A>T | NP_001135995.1:n.254-220A>T | |
| NM_007199.2:c.437-220A>T | NP_009130.2:n.437-220A>T | |
| NM_001142523.2:c.254-220A>T | NP_001135995.1:n.254-220A>T | |
| NM_007199.3:c.437-220A>T MANE Select | NP_009130.2:n.437-220A>T |