Linked Data
dbSNP Id:
rs771733803
ExAC:
17:61909304 T / C
gnomAD v2:
17-61909304-T-C
gnomAD v4:
17-63831944-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63831944T>C , CM000679.2:g.63831944T>C | GRCh38 |
| NC_000017.10:g.61909304T>C , CM000679.1:g.61909304T>C | GRCh37 |
| NC_000017.9:g.59263036T>C | NCBI36 |
| NG_053004.1:g.16048A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584880.6:c.*393T>C | ENSP00000464347.2:n.*393T>C | |
| ENST00000703608.1:c.*713T>C | ENSP00000515392.1:n.*713T>C | |
| ENST00000703609.1:c.1115T>C | ENSP00000515393.1:p.Met372Thr | |
| ENST00000703610.1:c.*473T>C | ENSP00000515394.1:n.*473T>C | |
| ENST00000310144.11:c.1196T>C MANE Select | ENSP00000310572.6:p.Met399Thr | |
| ENST00000310144.10:c.1196T>C | ENSP00000310572.6:p.Met399Thr | |
| ENST00000375812.8:c.1172T>C | ENSP00000364970.4:p.Met391Thr | |
| ENST00000578570.5:n.1606T>C | ||
| ENST00000579147.5:n.2511T>C | ||
| ENST00000580864.5:c.1172T>C | ENSP00000462495.1:p.Met391Thr | |
| ENST00000581882.5:c.1172T>C | ENSP00000463938.1:p.Met391Thr | |
| ENST00000584657.1:n.501T>C | ||
| ENST00000585242.5:c.*967T>C | ENSP00000463107.1:n.*967T>C | |
| NM_001199163.1:c.1172T>C | NP_001186092.1:p.Met391Thr | |
| NM_002805.5:c.1196T>C | NP_002796.4:p.Met399Thr | |
| XM_006721980.1:c.1196T>C | XP_006722043.1:p.Met399Thr | |
| XR_934508.1:n.1285T>C | ||
| XM_024450840.1:c.1277T>C | XP_024306608.1:p.Met426Thr | |
| XM_024450841.1:c.1253T>C | XP_024306609.1:p.Met418Thr | |
| XR_934508.2:n.1272T>C | ||
| NM_002805.6:c.1196T>C MANE Select | NP_002796.4:p.Met399Thr | |
| NM_001199163.2:c.1172T>C | NP_001186092.1:p.Met391Thr |