gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202727750C>G , CM000663.2:g.202727750C>G | GRCh38 |
| NC_000001.10:g.202696878C>G , CM000663.1:g.202696878C>G | GRCh37 |
| NC_000001.9:g.200963501C>G | NCBI36 |
| NG_050659.1:g.86658G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367264.7:c.*1286G>C | ENSP00000356233.2:n.*1286G>C | |
| ENST00000367265.9:c.*1286G>C MANE Select | ENSP00000356234.3:n.*1286G>C | |
| ENST00000472822.6:n.3460G>C | ||
| ENST00000647747.1:n.2920G>C | ||
| ENST00000647757.1:n.6340G>C | ||
| ENST00000648056.1:c.*1286G>C | ENSP00000497113.1:n.*1286G>C | |
| ENST00000648338.1:c.*1900G>C | ENSP00000497564.1:n.*1900G>C | |
| ENST00000648473.1:c.*1704G>C | ENSP00000497743.1:n.*1704G>C | |
| ENST00000648676.1:c.10-1247G>C | ENSP00000497823.1:n.10-1247G>C | |
| ENST00000649230.1:n.5147G>C | ||
| ENST00000649339.1:n.2795G>C | ||
| ENST00000649400.1:n.4417G>C | ||
| ENST00000649542.1:n.5804G>C | ||
| ENST00000649770.1:c.*1309G>C | ENSP00000497288.1:n.*1309G>C | |
| ENST00000650506.1:n.5558G>C | ||
| ENST00000650569.1:c.*1286G>C | ENSP00000497671.1:n.*1286G>C | |
| ENST00000367264.6:c.*1286G>C | ENSP00000356233.2:n.*1286G>C | |
| ENST00000367265.7:c.*1286G>C | ENSP00000356234.3:n.*1286G>C | |
| NM_001314042.1:c.*1286G>C | NP_001300971.1:n.*1286G>C | |
| NM_006618.3:c.*1286G>C | NP_006609.3:n.*1286G>C | |
| NM_006618.4:c.*1286G>C | NP_006609.3:n.*1286G>C | |
| XM_011509087.1:c.*1286G>C | XP_011507389.1:n.*1286G>C | |
| XM_011509088.1:c.*1286G>C | XP_011507390.1:n.*1286G>C | |
| XM_011509089.1:c.*1286G>C | XP_011507391.1:n.*1286G>C | |
| XM_011509090.1:c.*1286G>C | XP_011507392.1:n.*1286G>C | |
| XM_011509091.1:c.*1286G>C | XP_011507393.1:n.*1286G>C | |
| XM_011509092.1:c.*1286G>C | XP_011507394.1:n.*1286G>C | |
| NM_001347591.1:c.*1286G>C | NP_001334520.1:n.*1286G>C | |
| XM_011509090.3:c.*1286G>C | XP_011507392.1:n.*1286G>C | |
| XM_011509091.2:c.*1286G>C | XP_011507393.1:n.*1286G>C | |
| XM_011509092.2:c.*1286G>C | XP_011507394.1:n.*1286G>C | |
| NM_006618.5:c.*1286G>C MANE Select | NP_006609.3:n.*1286G>C | |
| NM_001314042.2:c.*1286G>C | NP_001300971.1:n.*1286G>C | |
| NM_001347591.2:c.*1286G>C | NP_001334520.1:n.*1286G>C | |
| NM_001399817.1:c.*1286G>C | NP_001386746.1:n.*1286G>C |