Linked Data
ClinVar Variation Id:
1423830
ClinVar RCV Id:
RCV001954907
dbSNP Id:
rs763557773
ExAC:
9:138657597 T / C
gnomAD v2:
9-138657597-T-C
gnomAD v4:
9-135765751-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135765751T>C , CM000671.2:g.135765751T>C | GRCh38 |
| NC_000009.11:g.138657597T>C , CM000671.1:g.138657597T>C | GRCh37 |
| NC_000009.10:g.137797418T>C | NCBI36 |
| NG_033070.1:g.68567T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.1328T>C MANE Select | ENSP00000360822.2:p.Met443Thr | |
| ENST00000636003.1:c.18T>C | ||
| ENST00000636995.1:n.55T>C | ||
| ENST00000637798.1:n.67T>C | ||
| ENST00000674572.1:c.1169T>C | ENSP00000501742.1:p.Met390Thr | |
| ENST00000675090.1:c.1076T>C | ENSP00000501833.1:p.Met359Thr | |
| ENST00000675399.1:c.1076T>C | ENSP00000501932.1:p.Met359Thr | |
| ENST00000676421.1:c.1085T>C | ENSP00000502322.1:p.Met362Thr | |
| ENST00000263604.5:c.1229T>C | ENSP00000263604.4:p.Met410Thr | |
| ENST00000371757.6:c.1328T>C | ENSP00000360822.2:p.Met443Thr | |
| ENST00000460750.5:c.*938T>C | ENSP00000418777.1:n.*938T>C | |
| ENST00000486577.6:c.1211T>C | ENSP00000417578.3:p.Met404Thr | |
| ENST00000487664.5:c.1328T>C | ENSP00000417851.2:p.Met443Thr | |
| ENST00000488444.6:c.1271T>C | ENSP00000419007.3:p.Met424Thr | |
| ENST00000490355.6:c.1271T>C | ENSP00000418003.3:p.Met424Thr | |
| ENST00000490363.3:n.1147T>C | ||
| ENST00000491806.6:c.1271T>C | ENSP00000419086.3:p.Met424Thr | |
| ENST00000628528.2:c.1193T>C | ENSP00000486374.1:p.Met398Thr | |
| ENST00000630792.2:c.1169T>C | ENSP00000486486.1:p.Met390Thr | |
| ENST00000631073.2:c.1271T>C | ENSP00000486130.1:p.Met424Thr | |
| NM_001272003.1:c.1193T>C | NP_001258932.1:p.Met398Thr | |
| NM_020822.2:c.1328T>C | NP_065873.2:p.Met443Thr | |
| XM_011518877.1:c.1463T>C | XP_011517179.1:p.Met488Thr | |
| XM_011518878.1:c.1472T>C | XP_011517180.1:p.Met491Thr | |
| XM_011518879.1:c.1463T>C | XP_011517181.1:p.Met488Thr | |
| XM_011518880.1:c.1229T>C | XP_011517182.1:p.Met410Thr | |
| XM_011518881.1:c.818T>C | XP_011517183.1:p.Met273Thr | |
| XM_011518877.3:c.1463T>C | XP_011517179.1:p.Met488Thr | |
| XM_011518878.3:c.1472T>C | XP_011517180.1:p.Met491Thr | |
| XM_011518879.3:c.1463T>C | XP_011517181.1:p.Met488Thr | |
| XM_011518881.3:c.818T>C | XP_011517183.1:p.Met273Thr | |
| XM_017014931.1:c.1262T>C | XP_016870420.1:p.Met421Thr | |
| XM_017014932.1:c.1085T>C | XP_016870421.1:p.Met362Thr | |
| XM_017014933.1:c.818T>C | XP_016870422.1:p.Met273Thr | |
| XM_024447617.1:c.818T>C | XP_024303385.1:p.Met273Thr | |
| XM_024447618.1:c.818T>C | XP_024303386.1:p.Met273Thr | |
| NM_020822.3:c.1328T>C MANE Select | NP_065873.2:p.Met443Thr | |
| NM_001272003.2:c.1193T>C | NP_001258932.1:p.Met398Thr |