dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.35729217T>C , CM000684.2:g.35729217T>C | GRCh38 |
| NC_000022.10:g.36125264T>C , CM000684.1:g.36125264T>C | GRCh37 |
| NC_000022.9:g.34455210T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249044.2:c.1309-137T>C MANE Select | ENSP00000249044.2:n.1309-137T>C | |
| NM_030642.1:c.1309-137T>C MANE Select | NP_085145.1:n.1309-137T>C | |
| XM_006724321.2:c.*7-137T>C | XP_006724384.1:n.*7-137T>C | |
| XM_011530393.1:c.*7-137T>C | XP_011528695.1:n.*7-137T>C | |
| XM_006724321.4:c.*7-137T>C | XP_006724384.1:n.*7-137T>C | |
| XM_017028945.2:c.*7-137T>C | XP_016884434.1:n.*7-137T>C |