Linked Data
ClinVar Variation Id:
367235
dbSNP Id:
rs376663560
ExAC:
9:71867780 C / T
gnomAD v2:
9-71867780-C-T
gnomAD v3:
9-69252864-C-T
gnomAD v4:
9-69252864-C-T
COSMIC:
COSM1229320
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69252864C>T , CM000671.2:g.69252864C>T | GRCh38 |
| NC_000009.11:g.71867780C>T , CM000671.1:g.71867780C>T | GRCh37 |
| NC_000009.10:g.71057600C>T | NCBI36 |
| NG_016342.1:g.136557C>T | |
| NG_016342.2:g.156958C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348208.9:c.2930C>T | ENSP00000345893.4:p.Thr977Met | |
| ENST00000377245.9:c.3371C>T MANE Select | ENSP00000366453.4:p.Thr1124Met | |
| ENST00000498204.2:n.2367C>T | ||
| ENST00000535702.6:c.3272C>T | ENSP00000442090.1:p.Thr1091Met | |
| ENST00000539225.2:c.3464C>T | ENSP00000438262.1:p.Thr1155Met | |
| ENST00000636438.1:c.3548C>T | ENSP00000489860.1:p.Thr1183Met | |
| ENST00000642889.1:c.3758C>T | ENSP00000493780.1:p.Thr1253Met | |
| ENST00000645088.1:c.*3567C>T | ENSP00000495447.1:n.*3567C>T | |
| ENST00000648042.1:c.1756C>T | ||
| ENST00000649114.1:c.2930C>T | ENSP00000497328.1:p.Thr977Met | |
| ENST00000649134.1:c.2942C>T | ENSP00000498068.1:p.Thr981Met | |
| ENST00000649783.1:n.3284C>T | ||
| ENST00000649927.1:n.2366C>T | ||
| ENST00000649943.1:c.3260C>T | ENSP00000497539.1:p.Thr1087Met | |
| ENST00000650084.1:c.3374C>T | ENSP00000497861.1:p.Thr1125Met | |
| ENST00000650333.1:c.3302C>T | ENSP00000496791.1:p.Thr1101Met | |
| ENST00000650353.1:n.966C>T | ||
| ENST00000650460.1:c.1889C>T | ||
| ENST00000650522.1:n.2783C>T | ||
| ENST00000348208.8:c.2930C>T | ENSP00000345893.4:p.Thr977Met | |
| ENST00000377245.8:c.3371C>T | ENSP00000366453.4:p.Thr1124Met | |
| ENST00000453658.6:c.2861C>T | ENSP00000392178.2:p.Thr954Met | |
| ENST00000535702.5:c.3272C>T | ENSP00000442090.1:p.Thr1091Met | |
| ENST00000539225.1:c.3464C>T | ENSP00000438262.1:p.Thr1155Met | |
| NM_001170414.2:c.2861C>T | NP_001163885.1:p.Thr954Met | |
| NM_001170415.1:c.3272C>T | NP_001163886.1:p.Thr1091Met | |
| NM_001170416.1:c.3464C>T | NP_001163887.1:p.Thr1155Met | |
| NM_004817.3:c.3371C>T | NP_004808.2:p.Thr1124Met | |
| NM_201629.3:c.2930C>T | NP_963923.1:p.Thr977Met | |
| XM_005252314.1:c.3383C>T | XP_005252371.1:p.Thr1128Met | |
| XM_006717324.2:c.3365C>T | XP_006717387.1:p.Thr1122Met | |
| XM_011519204.1:c.3191C>T | XP_011517506.1:p.Thr1064Met | |
| XM_011519205.1:c.3302C>T | XP_011517507.1:p.Thr1101Met | |
| XM_011519206.1:c.3302C>T | XP_011517508.1:p.Thr1101Met | |
| XM_011519207.1:c.3302C>T | XP_011517509.1:p.Thr1101Met | |
| XM_011519208.1:c.3302C>T | XP_011517510.1:p.Thr1101Met | |
| XM_011519209.1:c.3302C>T | XP_011517511.1:p.Thr1101Met | |
| NM_004817.4:c.3371C>T MANE Select | NP_004808.2:p.Thr1124Met | |
| XM_005252314.2:c.3383C>T | XP_005252371.1:p.Thr1128Met | |
| XM_011519206.2:c.3302C>T | XP_011517508.1:p.Thr1101Met | |
| XM_011519207.2:c.3302C>T | XP_011517509.1:p.Thr1101Met | |
| XM_011519208.2:c.3302C>T | XP_011517510.1:p.Thr1101Met | |
| XM_011519209.2:c.3302C>T | XP_011517511.1:p.Thr1101Met | |
| XM_017015327.2:c.3260C>T | XP_016870816.1:p.Thr1087Met | |
| XM_017015328.1:c.2942C>T | XP_016870817.1:p.Thr981Met | |
| NM_001170416.2:c.3464C>T | NP_001163887.1:p.Thr1155Met | |
| NM_001369870.1:c.3296C>T | NP_001356799.1:p.Thr1099Met | |
| NM_001369871.1:c.3302C>T | NP_001356800.1:p.Thr1101Met | |
| NM_001369872.1:c.3260C>T | NP_001356801.1:p.Thr1087Met | |
| NM_001369873.1:c.3047C>T | NP_001356802.1:p.Thr1016Met | |
| NM_001369874.1:c.2942C>T | NP_001356803.1:p.Thr981Met | |
| NM_001369875.1:c.3383C>T | NP_001356804.1:p.Thr1128Met |