Linked Data
ClinVar Variation Id:
404397
ClinVar RCV Id:
RCV000462264
dbSNP Id:
rs770794082
gnomAD v4:
1-201359214-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201359214T>G , CM000663.2:g.201359214T>G | GRCh38 |
| NC_000001.10:g.201328342T>G , CM000663.1:g.201328342T>G | GRCh37 |
| NC_000001.9:g.199594965T>G | NCBI36 |
| NG_007556.1:g.23464A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455702.7:c.878A>C | ENSP00000402238.3:p.Lys293Thr | |
| ENST00000367318.10:c.863A>C | ENSP00000356287.5:p.Lys288Thr | |
| ENST00000367322.6:c.851A>C | ENSP00000356291.2:p.Lys284Thr | |
| ENST00000412633.3:c.854A>C | ENSP00000408731.2:p.Lys285Thr | |
| ENST00000422165.6:c.884A>C | ENSP00000395163.2:p.Lys295Thr | |
| ENST00000438742.6:c.842A>C | ENSP00000414036.2:p.Lys281Thr | |
| ENST00000651504.1:n.1354A>C | ||
| ENST00000656932.1:c.893A>C MANE Select | ENSP00000499593.1:p.Lys298Thr | |
| ENST00000658476.1:c.928A>C | ENSP00000499741.1:p.Asn310His | |
| ENST00000660295.1:c.863A>C | ENSP00000499418.1:p.Lys288Thr | |
| ENST00000662159.1:c.*252A>C | ENSP00000499796.1:n.*252A>C | |
| ENST00000663843.1:c.*793A>C | ENSP00000499590.1:n.*793A>C | |
| ENST00000666449.1:c.*138A>C | ENSP00000499667.1:n.*138A>C | |
| ENST00000236918.11:c.893A>C | ENSP00000236918.8:p.Lys298Thr | |
| ENST00000360372.8:c.764A>C | ENSP00000353535.5:p.Lys255Thr | |
| ENST00000367315.6:c.872A>C | ENSP00000356284.3:p.Lys291Thr | |
| ENST00000367317.8:c.845A>C | ENSP00000356286.5:p.Lys282Thr | |
| ENST00000367318.9:c.863A>C | ENSP00000356287.5:p.Lys288Thr | |
| ENST00000367320.6:c.764A>C | ENSP00000356289.2:p.Lys255Thr | |
| ENST00000367322.5:c.854A>C | ENSP00000356291.1:p.Lys285Thr | |
| ENST00000421663.6:c.677A>C | ENSP00000404134.3:p.Lys226Thr | |
| ENST00000458432.6:c.677A>C | ENSP00000387874.3:p.Lys226Thr | |
| ENST00000460780.5:n.2012A>C | ||
| ENST00000476888.5:n.310A>C | ||
| ENST00000491504.5:n.2102A>C | ||
| ENST00000509001.5:c.863A>C | ENSP00000422031.1:p.Lys288Thr | |
| NM_000364.3:c.884A>C | NP_000355.2:p.Lys295Thr | |
| NM_001001430.2:c.863A>C | NP_001001430.1:p.Lys288Thr | |
| NM_001001431.2:c.854A>C | NP_001001431.1:p.Lys285Thr | |
| NM_001001432.2:c.845A>C | NP_001001432.1:p.Lys282Thr | |
| NM_001276345.1:c.893A>C | NP_001263274.1:p.Lys298Thr | |
| NM_001276346.1:c.764A>C | NP_001263275.1:p.Lys255Thr | |
| NM_001276347.1:c.863A>C | NP_001263276.1:p.Lys288Thr | |
| XM_006711508.2:c.863A>C | XP_006711571.1:p.Lys288Thr | |
| XM_006711509.2:c.860A>C | XP_006711572.1:p.Lys287Thr | |
| XM_011509938.1:c.893A>C | XP_011508240.1:p.Lys298Thr | |
| XM_011509939.1:c.890A>C | XP_011508241.1:p.Lys297Thr | |
| XM_011509940.1:c.890A>C | XP_011508242.1:p.Lys297Thr | |
| XM_011509941.1:c.887A>C | XP_011508243.1:p.Lys296Thr | |
| XM_011509942.1:c.848A>C | XP_011508244.1:p.Lys283Thr | |
| XM_011509943.1:c.848A>C | XP_011508245.1:p.Lys283Thr | |
| XM_011509944.1:c.845A>C | XP_011508246.1:p.Lys282Thr | |
| XM_011509946.1:c.686A>C | XP_011508248.1:p.Lys229Thr | |
| XM_006711508.3:c.863A>C | XP_006711571.1:p.Lys288Thr | |
| XM_006711509.3:c.860A>C | XP_006711572.1:p.Lys287Thr | |
| XM_011509938.2:c.893A>C | XP_011508240.1:p.Lys298Thr | |
| XM_011509940.2:c.890A>C | XP_011508242.1:p.Lys297Thr | |
| XM_011509941.2:c.887A>C | XP_011508243.1:p.Lys296Thr | |
| XM_011509942.2:c.848A>C | XP_011508244.1:p.Lys283Thr | |
| XM_011509943.2:c.848A>C | XP_011508245.1:p.Lys283Thr | |
| XM_011509944.2:c.845A>C | XP_011508246.1:p.Lys282Thr | |
| XM_017002216.2:c.860A>C | XP_016857705.1:p.Lys287Thr | |
| XM_017002217.1:c.854A>C | XP_016857706.1:p.Lys285Thr | |
| XM_024449450.1:c.893A>C | XP_024305218.1:p.Lys298Thr | |
| XM_024449454.1:c.860A>C | XP_024305222.1:p.Lys287Thr | |
| XM_024449455.1:c.860A>C | XP_024305223.1:p.Lys287Thr | |
| NM_000364.4:c.884A>C | NP_000355.2:p.Lys295Thr | |
| NM_001001430.3:c.863A>C | NP_001001430.1:p.Lys288Thr | |
| NM_001001431.3:c.854A>C | NP_001001431.1:p.Lys285Thr | |
| NM_001001432.3:c.845A>C | NP_001001432.1:p.Lys282Thr | |
| NM_001276345.2:c.893A>C MANE Select | NP_001263274.1:p.Lys298Thr | |
| NM_001276346.2:c.764A>C | NP_001263275.1:p.Lys255Thr | |
| NM_001276347.2:c.863A>C | NP_001263276.1:p.Lys288Thr |