dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113946934T>C , CM000673.2:g.113946934T>C | GRCh38 |
| NC_000011.9:g.113817656T>C , CM000673.1:g.113817656T>C | GRCh37 |
| NC_000011.8:g.113322866T>C | NCBI36 |
| NG_011483.1:g.47068T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260191.8:c.*797T>C MANE Select | ENSP00000260191.2:n.*797T>C | |
| ENST00000260191.7:c.*797T>C | ENSP00000260191.2:n.*797T>C | |
| XM_017018552.2:c.*797T>C | XP_016874041.1:n.*797T>C | |
| XR_001748034.2:n.2163T>C | ||
| NM_001363563.2:c.*797T>C | NP_001350492.1:n.*797T>C | |
| NM_006028.5:c.*797T>C MANE Select | NP_006019.1:n.*797T>C |