Linked Data
ClinVar Variation Id:
704408
dbSNP Id:
rs750394365
ExAC:
5:161300164 T / C
gnomAD v2:
5-161300164-T-C
gnomAD v3:
5-161873158-T-C
gnomAD v4:
5-161873158-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.161873158T>C , CM000667.2:g.161873158T>C | GRCh38 |
| NC_000005.9:g.161300164T>C , CM000667.1:g.161300164T>C | GRCh37 |
| NC_000005.8:g.161232742T>C | NCBI36 |
| NG_011548.1:g.30968T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393943.10:c.297T>C MANE Select | ENSP00000377517.4:p.Asp99= | |
| ENST00000635880.1:c.297T>C | ENSP00000489738.1:p.Asp99= | |
| ENST00000635916.2:n.1072T>C | ||
| ENST00000636340.1:c.*146T>C | ENSP00000490002.1:n.*146T>C | |
| ENST00000636408.1:n.101T>C | ||
| ENST00000636573.1:c.297T>C | ENSP00000490320.1:p.Asp99= | |
| ENST00000637044.1:c.*71T>C | ENSP00000490684.1:n.*71T>C | |
| ENST00000637827.1:c.297T>C | ENSP00000490804.1:p.Asp99= | |
| ENST00000638112.1:c.297T>C | ENSP00000489839.1:p.Asp99= | |
| ENST00000638159.1:c.342T>C | ENSP00000490360.1:p.Asp114= | |
| ENST00000023897.10:c.297T>C | ENSP00000023897.6:p.Asp99= | |
| ENST00000393943.9:c.297T>C | ENSP00000377517.4:p.Asp99= | |
| ENST00000428797.7:c.297T>C | ENSP00000393097.2:p.Asp99= | |
| ENST00000437025.6:c.297T>C | ENSP00000415441.2:p.Asp99= | |
| ENST00000519542.1:n.61T>C | ||
| ENST00000519621.2:c.297T>C | ENSP00000430435.2:p.Asp99= | |
| ENST00000634335.1:c.297T>C | ENSP00000489434.1:p.Asp99= | |
| NM_000806.5:c.297T>C | NP_000797.2:p.Asp99= | |
| NM_001127643.1:c.297T>C | NP_001121115.1:p.Asp99= | |
| NM_001127644.1:c.297T>C | NP_001121116.1:p.Asp99= | |
| NM_001127645.1:c.297T>C | NP_001121117.1:p.Asp99= | |
| NM_001127648.1:c.297T>C | NP_001121120.1:p.Asp99= | |
| NM_001127644.2:c.297T>C MANE Select | NP_001121116.1:p.Asp99= | |
| NM_001127643.2:c.297T>C | NP_001121115.1:p.Asp99= | |
| NM_001127645.2:c.297T>C | NP_001121117.1:p.Asp99= | |
| NM_001127648.2:c.297T>C | NP_001121120.1:p.Asp99= |