Linked Data
ClinVar Variation Id:
377900
ClinVar RCV Id:
RCV001705572
dbSNP Id:
rs200321984
ExAC:
5:161277777 G / T
gnomAD v2:
5-161277777-G-T
gnomAD v3:
5-161850771-G-T
gnomAD v4:
5-161850771-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.161850771G>T , CM000667.2:g.161850771G>T | GRCh38 |
| NC_000005.9:g.161277777G>T , CM000667.1:g.161277777G>T | GRCh37 |
| NC_000005.8:g.161210355G>T | NCBI36 |
| NG_011548.1:g.8581G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393943.10:c.-15-25G>T MANE Select | ENSP00000377517.4:n.-15-25G>T | |
| ENST00000635880.1:c.-15-25G>T | ENSP00000489738.1:n.-15-25G>T | |
| ENST00000635916.2:n.761-25G>T | ||
| ENST00000636340.1:c.-15-25G>T | ENSP00000490002.1:n.-15-25G>T | |
| ENST00000636573.1:c.-15-25G>T | ENSP00000490320.1:n.-15-25G>T | |
| ENST00000637044.1:c.-15-25G>T | ENSP00000490684.1:n.-15-25G>T | |
| ENST00000637620.1:n.61-25G>T | ||
| ENST00000637827.1:c.-15-25G>T | ENSP00000490804.1:n.-15-25G>T | |
| ENST00000638112.1:c.-15-25G>T | ENSP00000489839.1:n.-15-25G>T | |
| ENST00000638159.1:c.31-25G>T | ENSP00000490360.1:n.31-25G>T | |
| ENST00000023897.10:c.-15-25G>T | ENSP00000023897.6:n.-15-25G>T | |
| ENST00000393943.9:c.-15-25G>T | ENSP00000377517.4:n.-15-25G>T | |
| ENST00000428797.7:c.-15-25G>T | ENSP00000393097.2:n.-15-25G>T | |
| ENST00000437025.6:c.-15-25G>T | ENSP00000415441.2:n.-15-25G>T | |
| ENST00000519621.2:c.-6-34G>T | ENSP00000430435.2:n.-6-34G>T | |
| ENST00000521339.5:c.4-25G>T | ENSP00000430895.1:n.4-25G>T | |
| ENST00000522651.6:c.49-25G>T | ENSP00000430507.2:n.49-25G>T | |
| ENST00000634335.1:c.-40G>T | ENSP00000489434.1:n.-40G>T | |
| ENST00000635096.1:c.-15-25G>T | ENSP00000489033.1:n.-15-25G>T | |
| NM_000806.5:c.-15-25G>T | NP_000797.2:n.-15-25G>T | |
| NM_001127643.1:c.-15-25G>T | NP_001121115.1:n.-15-25G>T | |
| NM_001127644.1:c.-15-25G>T | NP_001121116.1:n.-15-25G>T | |
| NM_001127645.1:c.-15-25G>T | NP_001121117.1:n.-15-25G>T | |
| NM_001127648.1:c.-40G>T | NP_001121120.1:n.-40G>T | |
| NM_001127644.2:c.-15-25G>T MANE Select | NP_001121116.1:n.-15-25G>T | |
| NM_001127643.2:c.-15-25G>T | NP_001121115.1:n.-15-25G>T | |
| NM_001127645.2:c.-15-25G>T | NP_001121117.1:n.-15-25G>T | |
| NM_001127648.2:c.-40G>T | NP_001121120.1:n.-40G>T |