Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108439877T>C , CM000685.2:g.108439877T>C | GRCh38 |
| NC_000023.10:g.107683107T>C , CM000685.1:g.107683107T>C | GRCh37 |
| NC_000023.9:g.107569763T>C | NCBI36 |
| NG_011977.1:g.4954T>C | |
| NG_012059.2:g.4598A>G | |
| NG_011977.2:g.4954T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.-249T>C MANE Select | ENSP00000331902.7:n.-249T>C | |
| ENST00000477429.1:n.34T>C | ||
| NM_000495.4:c.-249T>C | NP_000486.1:n.-249T>C | |
| NM_033380.2:c.-249T>C | NP_203699.1:n.-249T>C | |
| XM_005262070.2:c.-249T>C | XP_005262127.1:n.-249T>C | |
| XM_005262072.3:c.-249T>C | XP_005262129.1:n.-249T>C | |
| XM_006724616.2:c.-121+82T>C | XP_006724679.1:n.-121+82T>C | |
| XM_011530850.1:c.-249T>C | XP_011529152.1:n.-249T>C | |
| NM_000495.5:c.-249T>C | NP_000486.1:n.-249T>C | |
| NM_033380.3:c.-249T>C MANE Select | NP_203699.1:n.-249T>C |