Linked Data
ClinVar Variation Id:
985802
ClinVar RCV Id:
RCV001266896
dbSNP Id:
rs1794067085
gnomAD v4:
6-157201006-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157201006T>C , CM000668.2:g.157201006T>C | GRCh38 |
| NC_000006.11:g.157522140T>C , CM000668.1:g.157522140T>C | GRCh37 |
| NC_000006.10:g.157563832T>C | NCBI36 |
| NG_032093.1:g.428077T>C | |
| NG_032093.2:g.428077T>C | |
| NG_066624.1:g.429981T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.4622T>C | ENSP00000055163.8:p.Met1541Thr | |
| ENST00000414678.8:c.4691T>C | ENSP00000412835.3:p.Met1564Thr | |
| ENST00000637015.2:c.4910T>C | ENSP00000489729.2:p.Met1637Thr | |
| ENST00000346085.10:c.4661T>C | ENSP00000344546.5:p.Met1554Thr | |
| ENST00000350026.10:c.4373T>C | ENSP00000055163.7:p.Met1458Thr | |
| ENST00000414678.7:c.2939T>C | ENSP00000412835.2:p.Met980Thr | |
| ENST00000635849.1:c.2102T>C | ENSP00000490948.1:p.Met701Thr | |
| ENST00000635957.1:c.1733T>C | ENSP00000490385.1:p.Met578Thr | |
| ENST00000636227.1:n.3244T>C | ||
| ENST00000636254.1:n.701T>C | ||
| ENST00000636930.2:c.4781T>C MANE Select | ENSP00000490491.2:p.Met1594Thr | |
| ENST00000636940.1:n.2778T>C | ||
| ENST00000637015.1:c.2149T>C | ||
| ENST00000637568.1:c.2063T>C | ||
| ENST00000637741.1:n.1447T>C | ||
| ENST00000637810.1:c.2123T>C | ENSP00000489636.1:p.Met708Thr | |
| ENST00000637904.1:c.2282T>C | ENSP00000490550.1:p.Met761Thr | |
| ENST00000647938.1:c.4412T>C | ENSP00000498155.1:p.Met1471Thr | |
| ENST00000346085.9:c.4412T>C | ENSP00000344546.4:p.Met1471Thr | |
| ENST00000350026.9:c.4373T>C | ENSP00000055163.7:p.Met1458Thr | |
| ENST00000414678.6:c.2939T>C | ENSP00000412835.2:p.Met980Thr | |
| NM_017519.2:c.4373T>C | NP_059989.2:p.Met1458Thr | |
| NM_020732.3:c.4412T>C | NP_065783.3:p.Met1471Thr | |
| XM_005267069.3:c.4532T>C | XP_005267126.2:p.Met1511Thr | |
| XM_011535984.1:c.3611T>C | XP_011534286.1:p.Met1204Thr | |
| XM_011535985.1:c.3431T>C | XP_011534287.1:p.Met1144Thr | |
| XM_011535986.1:c.3191T>C | XP_011534288.1:p.Met1064Thr | |
| XM_011535987.1:c.2810T>C | XP_011534289.1:p.Met937Thr | |
| XM_011535988.1:c.1673T>C | XP_011534290.1:p.Met558Thr | |
| NM_001346813.1:c.4532T>C | NP_001333742.1:p.Met1511Thr | |
| NM_001363725.1:c.2282T>C | NP_001350654.1:p.Met761Thr | |
| XM_011535984.2:c.4742T>C | XP_011534286.2:p.Met1581Thr | |
| XM_011535988.3:c.1673T>C | XP_011534290.1:p.Met558Thr | |
| XM_017011103.2:c.4643T>C | XP_016866592.1:p.Met1548Thr | |
| XM_017011104.1:c.4613T>C | XP_016866593.1:p.Met1538Thr | |
| XM_017011105.2:c.4583T>C | XP_016866594.1:p.Met1528Thr | |
| XM_017011106.2:c.4454T>C | XP_016866595.1:p.Met1485Thr | |
| XM_017011107.2:c.4433T>C | XP_016866596.1:p.Met1478Thr | |
| XR_002956289.1:n.4728T>C | ||
| NM_001363725.2:c.2282T>C | NP_001350654.1:p.Met761Thr | |
| NM_001371656.1:c.4661T>C | NP_001358585.1:p.Met1554Thr | |
| NM_001374820.1:c.4661T>C | NP_001361749.1:p.Met1554Thr | |
| NM_001374828.1:c.4781T>C MANE Select | NP_001361757.1:p.Met1594Thr | |
| NM_017519.3:c.4622T>C | NP_059989.3:p.Met1541Thr |