dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114804160A>C , CM000671.2:g.114804160A>C | GRCh38 |
| NC_000009.11:g.117566440A>C , CM000671.1:g.117566440A>C | GRCh37 |
| NC_000009.10:g.116606261A>C | NCBI36 |
| NG_011488.2:g.6969T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374045.5:c.210+1643T>G MANE Select | ENSP00000363157.3:n.210+1643T>G | |
| ENST00000374045.4:c.210+1643T>G | ENSP00000363157.3:n.210+1643T>G | |
| NM_005118.3:c.210+1643T>G | NP_005109.2:n.210+1643T>G | |
| NM_005118.4:c.210+1643T>G MANE Select | NP_005109.2:n.210+1643T>G |