Linked Data
dbSNP Id:
rs1370877262
gnomAD v2:
11-121393365-T-C
gnomAD v3:
11-121522656-T-C
gnomAD v4:
11-121522656-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121522656T>C , CM000673.2:g.121522656T>C | GRCh38 |
| NC_000011.9:g.121393365T>C , CM000673.1:g.121393365T>C | GRCh37 |
| NC_000011.8:g.120898575T>C | NCBI36 |
| NG_023313.1:g.75405T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260197.12:c.1475T>C MANE Select | ENSP00000260197.6:p.Met492Thr | |
| ENST00000260197.11:c.1475T>C | ENSP00000260197.6:p.Met492Thr | |
| ENST00000532451.1:n.1427T>C | ||
| NM_003105.5:c.1475T>C | NP_003096.1:p.Met492Thr | |
| XM_011542963.1:c.1475T>C | XP_011541265.1:p.Met492Thr | |
| XM_011542964.1:c.1475T>C | XP_011541266.1:p.Met492Thr | |
| XM_011542965.1:c.-148T>C | XP_011541267.1:n.-148T>C | |
| XM_011542963.3:c.1475T>C | XP_011541265.1:p.Met492Thr | |
| XM_011542965.3:c.-148T>C | XP_011541267.1:n.-148T>C | |
| XM_017018169.2:c.1163T>C | XP_016873658.1:p.Met388Thr | |
| XM_017018170.2:c.950T>C | XP_016873659.1:p.Met317Thr | |
| XM_017018171.1:c.1475T>C | XP_016873660.1:p.Met492Thr | |
| NM_003105.6:c.1475T>C MANE Select | NP_003096.2:p.Met492Thr |