Linked Data
dbSNP Id:
rs755421619
ExAC:
1:197446701 T / C
gnomAD v2:
1-197446701-T-C
gnomAD v4:
1-197477571-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197477571T>C , CM000663.2:g.197477571T>C | GRCh38 |
| NC_000001.10:g.197446701T>C , CM000663.1:g.197446701T>C | GRCh37 |
| NC_000001.9:g.195713324T>C | NCBI36 |
| NG_008483.1:g.214294T>C | |
| NG_008483.2:g.281110T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.4006-93T>C MANE Select | ENSP00000356370.3:n.4006-93T>C | |
| ENST00000367399.6:c.3670-93T>C | ENSP00000356369.2:n.3670-93T>C | |
| ENST00000367400.7:c.4006-93T>C | ENSP00000356370.3:n.4006-93T>C | |
| ENST00000448952.1:c.147T>C | ENSP00000395407.1:n.147T>C | |
| ENST00000484075.5:c.*117-93T>C | ENSP00000433932.1:n.*117-93T>C | |
| ENST00000535699.5:c.3934-93T>C | ENSP00000438786.1:n.3934-93T>C | |
| ENST00000538660.5:c.2398-93T>C | ENSP00000438091.1:n.2398-93T>C | |
| NM_001193640.1:c.3670-93T>C | NP_001180569.1:n.3670-93T>C | |
| NM_001257965.1:c.3934-93T>C | NP_001244894.1:n.3934-93T>C | |
| NM_001257966.1:c.2398-93T>C | NP_001244895.1:n.2398-93T>C | |
| NM_201253.2:c.4006-93T>C | NP_957705.1:n.4006-93T>C | |
| NR_047563.1:n.4007-93T>C | ||
| NR_047564.1:n.4457-93T>C | ||
| XM_011509366.1:c.*18T>C | XP_011507668.1:n.*18T>C | |
| XM_011509367.1:c.3879-93T>C | XP_011507669.1:n.3879-93T>C | |
| XM_011509368.1:c.3424-93T>C | XP_011507670.1:n.3424-93T>C | |
| XM_011509369.1:c.2449-93T>C | XP_011507671.1:n.2449-93T>C | |
| XM_011509369.2:c.2449-93T>C | XP_011507671.1:n.2449-93T>C | |
| XM_017000851.1:c.3163-93T>C | XP_016856340.1:n.3163-93T>C | |
| XM_017000852.1:c.4141-93T>C | XP_016856341.1:n.4141-93T>C | |
| NM_201253.3:c.4006-93T>C MANE Select | NP_957705.1:n.4006-93T>C | |
| NM_001193640.2:c.3670-93T>C | NP_001180569.1:n.3670-93T>C | |
| NM_001257965.2:c.3934-93T>C | NP_001244894.1:n.3934-93T>C | |
| NR_047563.2:n.3959-93T>C | ||
| NR_047564.2:n.4409-93T>C | ||
| NM_001257966.2:c.2398-93T>C | NP_001244895.1:n.2398-93T>C |