Linked Data
ClinVar Variation Id:
1207115
ClinVar RCV Id:
RCV001574995
dbSNP Id:
rs116129145
gnomAD v2:
17-2568592-T-C
gnomAD v3:
17-2665298-T-C
gnomAD v4:
17-2665298-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2665298T>C , CM000679.2:g.2665298T>C | GRCh38 |
| NC_000017.10:g.2568592T>C , CM000679.1:g.2568592T>C | GRCh37 |
| NC_000017.9:g.2515342T>C | NCBI36 |
| NG_009799.1:g.76670T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397195.10:c.33-74T>C MANE Select | ENSP00000380378.4:n.33-74T>C | |
| ENST00000674608.1:c.87-74T>C | ENSP00000501976.1:n.87-74T>C | |
| ENST00000674717.1:c.-3-1694T>C | ENSP00000501931.1:n.-3-1694T>C | |
| ENST00000675202.1:c.33-74T>C | ENSP00000502843.1:n.33-74T>C | |
| ENST00000675331.1:c.33-74T>C | ENSP00000502031.1:n.33-74T>C | |
| ENST00000675390.1:c.33-74T>C | ENSP00000501969.1:n.33-74T>C | |
| ENST00000675430.1:n.260-74T>C | ||
| ENST00000675621.1:c.33-74T>C | ENSP00000502117.1:n.33-74T>C | |
| ENST00000675764.1:c.131-74T>C | ENSP00000502242.1:n.131-74T>C | |
| ENST00000676077.1:c.-163-74T>C | ENSP00000502507.1:n.-163-74T>C | |
| ENST00000676098.1:c.33-74T>C | ENSP00000502735.1:n.33-74T>C | |
| ENST00000676188.1:c.33-74T>C | ENSP00000502577.1:n.33-74T>C | |
| ENST00000676201.1:n.272-718T>C | ||
| ENST00000676353.1:c.-78-718T>C | ENSP00000502737.1:n.-78-718T>C | |
| ENST00000676456.1:n.223-718T>C | ||
| ENST00000397195.9:c.33-74T>C | ENSP00000380378.4:n.33-74T>C | |
| ENST00000570400.1:c.33-718T>C | ENSP00000460258.1:n.33-718T>C | |
| ENST00000572915.6:n.273-1694T>C | ||
| ENST00000574816.5:n.31-11016T>C | ||
| ENST00000575477.5:n.620-718T>C | ||
| ENST00000576586.5:c.33-74T>C | ENSP00000461087.1:n.33-74T>C | |
| NM_000430.3:c.33-74T>C | NP_000421.1:n.33-74T>C | |
| XM_011523901.1:c.87-74T>C | XP_011522203.1:n.87-74T>C | |
| XM_011523902.1:c.87-74T>C | XP_011522204.1:n.87-74T>C | |
| XM_011523903.1:c.87-74T>C | XP_011522205.1:n.87-74T>C | |
| XM_011523904.1:c.87-74T>C | XP_011522206.1:n.87-74T>C | |
| XM_011523901.2:c.87-74T>C | XP_011522203.1:n.87-74T>C | |
| XM_011523902.3:c.87-74T>C | XP_011522204.1:n.87-74T>C | |
| XM_011523903.2:c.87-74T>C | XP_011522205.1:n.87-74T>C | |
| XM_017024701.1:c.33-74T>C | XP_016880190.1:n.33-74T>C | |
| XM_017024702.2:c.-78-718T>C | XP_016880191.1:n.-78-718T>C | |
| NM_000430.4:c.33-74T>C MANE Select | NP_000421.1:n.33-74T>C |