dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78325660G>T , CM000671.2:g.78325660G>T | GRCh38 |
| NC_000009.11:g.80940576G>T , CM000671.1:g.80940576G>T | GRCh37 |
| NC_000009.10:g.80130396G>T | NCBI36 |
| NG_012165.1:g.33518G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376588.4:c.870-2391G>T MANE Select | ENSP00000365773.3:n.870-2391G>T | |
| ENST00000347159.6:c.870-3321G>T | ENSP00000317606.2:n.870-3321G>T | |
| ENST00000376588.3:c.870-2391G>T | ENSP00000365773.3:n.870-2391G>T | |
| NM_021154.4:c.870-3321G>T | NP_066977.1:n.870-3321G>T | |
| NM_058179.3:c.870-2391G>T | NP_478059.1:n.870-2391G>T | |
| NM_058179.4:c.870-2391G>T MANE Select | NP_478059.1:n.870-2391G>T | |
| NM_021154.5:c.870-3321G>T | NP_066977.1:n.870-3321G>T |