Linked Data
ClinVar Variation Id:
325609
ClinVar RCV Id:
RCV000366531
dbSNP Id:
rs77195002
gnomAD v2:
17-75495973-C-T
gnomAD v3:
17-77499891-C-T
gnomAD v4:
17-77499891-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.77499891C>T , CM000679.2:g.77499891C>T | GRCh38 |
| NC_000017.10:g.75495973C>T , CM000679.1:g.75495973C>T | GRCh37 |
| NC_000017.9:g.73007568C>T | NCBI36 |
| NG_011683.1:g.223482C>T | |
| NG_011683.2:g.223482C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329047.13:c.*1233C>T MANE Plus Clinical | ENSP00000329161.8:n.*1233C>T | |
| ENST00000427177.6:c.*1233C>T MANE Select | ENSP00000391249.1:n.*1233C>T | |
| ENST00000329047.12:c.*1233C>T | ENSP00000329161.8:n.*1233C>T | |
| ENST00000423034.6:c.*1233C>T | ENSP00000405877.1:n.*1233C>T | |
| ENST00000427177.5:c.*1233C>T | ENSP00000391249.1:n.*1233C>T | |
| ENST00000427180.5:c.*1233C>T | ENSP00000415624.1:n.*1233C>T | |
| ENST00000427674.6:c.*1233C>T | ENSP00000403194.1:n.*1233C>T | |
| ENST00000431235.6:c.*1233C>T | ENSP00000406987.2:n.*1233C>T | |
| ENST00000449803.6:c.*1233C>T | ENSP00000400181.2:n.*1233C>T | |
| ENST00000541152.6:c.*1233C>T | ENSP00000438089.2:n.*1233C>T | |
| ENST00000588690.5:c.*844-373C>T | ENSP00000468668.1:n.*844-373C>T | |
| ENST00000590294.5:c.*108-516C>T | ENSP00000465464.1:n.*108-516C>T | |
| NM_001113491.1:c.*1233C>T | NP_001106963.1:n.*1233C>T | |
| NM_001113492.1:c.*1233C>T | NP_001106964.1:n.*1233C>T | |
| NM_001113493.1:c.*1233C>T | NP_001106965.1:n.*1233C>T | |
| NM_001113494.1:c.*1233C>T | NP_001106966.1:n.*1233C>T | |
| NM_001113495.1:c.*1233C>T | NP_001106967.1:n.*1233C>T | |
| NM_001113496.1:c.*1233C>T | NP_001106968.1:n.*1233C>T | |
| NM_001293695.1:c.*1233C>T | NP_001280624.1:n.*1233C>T | |
| NM_001293696.1:c.*1233C>T | NP_001280625.1:n.*1233C>T | |
| NM_001293697.1:c.*1233C>T | NP_001280626.1:n.*1233C>T | |
| NM_001293698.1:c.*1233C>T | NP_001280627.1:n.*1233C>T | |
| NM_006640.4:c.*1233C>T | NP_006631.2:n.*1233C>T | |
| XM_005256962.1:c.*1233C>T | XP_005257019.1:n.*1233C>T | |
| XM_006721643.2:c.*1233C>T | XP_006721706.1:n.*1233C>T | |
| XM_006721644.1:c.*1233C>T | XP_006721707.1:n.*1233C>T | |
| XM_011524204.1:c.*1233C>T | XP_011522506.1:n.*1233C>T | |
| XM_011524205.1:c.*1233C>T | XP_011522507.1:n.*1233C>T | |
| XM_011524206.1:c.*1233C>T | XP_011522508.1:n.*1233C>T | |
| XM_011524207.1:c.*1233C>T | XP_011522509.1:n.*1233C>T | |
| XM_011524208.1:c.*1233C>T | XP_011522510.1:n.*1233C>T | |
| XM_011524209.1:c.*1233C>T | XP_011522511.1:n.*1233C>T | |
| NM_001113491.2:c.*1233C>T MANE Select | NP_001106963.1:n.*1233C>T | |
| NM_001113493.2:c.*1233C>T | NP_001106965.1:n.*1233C>T | |
| NM_001113496.2:c.*1233C>T | NP_001106968.1:n.*1233C>T | |
| NM_001293695.2:c.*1233C>T | NP_001280624.1:n.*1233C>T | |
| NM_001293696.2:c.*1233C>T | NP_001280625.1:n.*1233C>T | |
| NM_001293697.2:c.*1233C>T | NP_001280626.1:n.*1233C>T | |
| NM_001293698.2:c.*1233C>T | NP_001280627.1:n.*1233C>T | |
| NM_001113492.2:c.*1233C>T | NP_001106964.1:n.*1233C>T | |
| NM_001113495.2:c.*1233C>T | NP_001106967.2:n.*1233C>T | |
| NM_006640.5:c.*1233C>T MANE Plus Clinical | NP_006631.2:n.*1233C>T |