dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.26338542T>G , CM000674.2:g.26338542T>G | GRCh38 |
| NC_000012.11:g.26491475T>G , CM000674.1:g.26491475T>G | GRCh37 |
| NC_000012.10:g.26382742T>G | NCBI36 |
| NG_042142.1:g.499657A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381340.8:c.*855A>C MANE Select | ENSP00000370744.3:n.*855A>C | |
| ENST00000381340.7:c.*855A>C | ENSP00000370744.3:n.*855A>C | |
| NM_002223.2:c.*855A>C | NP_002214.2:n.*855A>C | |
| NM_002223.3:c.*855A>C | NP_002214.2:n.*855A>C | |
| XM_011520645.1:c.*855A>C | XP_011518947.1:n.*855A>C | |
| XM_011520646.1:c.*855A>C | XP_011518948.1:n.*855A>C | |
| XM_017019266.1:c.*855A>C | XP_016874755.1:n.*855A>C | |
| XM_017019267.1:c.*855A>C | XP_016874756.1:n.*855A>C | |
| NM_002223.4:c.*855A>C MANE Select | NP_002214.2:n.*855A>C |