Linked Data
ClinVar Variation Id:
1705849
ClinVar RCV Id:
RCV002284157
COSMIC:
COSM443100
MutSpliceDB:
CA347008975
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.65016675T>C , CM000664.2:g.65016675T>C | GRCh38 |
| NC_000002.11:g.65243809T>C , CM000664.1:g.65243809T>C | GRCh37 |
| NC_000002.10:g.65097313T>C | NCBI36 |
| NG_053002.1:g.33231T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234256.4:c.1034+2T>C MANE Select | ENSP00000234256.3:n.1034+2T>C | |
| ENST00000234256.3:c.1034+2T>C | ENSP00000234256.3:n.1034+2T>C | |
| ENST00000471551.5:n.405-1396T>C | ||
| ENST00000480594.1:n.2507+2T>C | ||
| ENST00000531327.5:c.141-1396T>C | ENSP00000431942.1:n.141-1396T>C | |
| NM_001193493.1:c.141-1396T>C | NP_001180422.1:n.141-1396T>C | |
| NM_003038.4:c.1034+2T>C | NP_003029.2:n.1034+2T>C | |
| XM_006712079.1:c.374+2T>C | XP_006712142.1:n.374+2T>C | |
| NM_001348406.1:c.374+2T>C | NP_001335335.1:n.374+2T>C | |
| NM_001348407.1:c.374+2T>C | NP_001335336.1:n.374+2T>C | |
| XR_002959394.1:n.562+31279A>G | ||
| XR_002959395.1:n.621+31279A>G | ||
| XR_002959396.1:n.561+31279A>G | ||
| XR_002959397.1:n.302+31279A>G | ||
| XR_002959398.1:n.561+31279A>G | ||
| XR_002959399.1:n.558+31279A>G | ||
| NM_003038.5:c.1034+2T>C MANE Select | NP_003029.2:n.1034+2T>C | |
| NM_001193493.2:c.141-1396T>C | NP_001180422.1:n.141-1396T>C | |
| NM_001348406.2:c.374+2T>C | NP_001335335.1:n.374+2T>C | |
| NM_001348407.2:c.374+2T>C | NP_001335336.1:n.374+2T>C |