Linked Data
dbSNP Id:
rs6883877
gnomAD v2:
5-161278338-C-T
gnomAD v3:
5-161851332-C-T
gnomAD v4:
5-161851332-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.161851332C>T , CM000667.2:g.161851332C>T | GRCh38 |
| NC_000005.9:g.161278338C>T , CM000667.1:g.161278338C>T | GRCh37 |
| NC_000005.8:g.161210916C>T | NCBI36 |
| NG_011548.1:g.9142C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393943.10:c.74+448C>T MANE Select | ENSP00000377517.4:n.74+448C>T | |
| ENST00000635880.1:c.74+448C>T | ENSP00000489738.1:n.74+448C>T | |
| ENST00000635916.2:n.849+448C>T | ||
| ENST00000636340.1:c.74+448C>T | ENSP00000490002.1:n.74+448C>T | |
| ENST00000636573.1:c.74+448C>T | ENSP00000490320.1:n.74+448C>T | |
| ENST00000637044.1:c.74+448C>T | ENSP00000490684.1:n.74+448C>T | |
| ENST00000637827.1:c.74+448C>T | ENSP00000490804.1:n.74+448C>T | |
| ENST00000638112.1:c.74+448C>T | ENSP00000489839.1:n.74+448C>T | |
| ENST00000638159.1:c.119+448C>T | ENSP00000490360.1:n.119+448C>T | |
| ENST00000023897.10:c.74+448C>T | ENSP00000023897.6:n.74+448C>T | |
| ENST00000393943.9:c.74+448C>T | ENSP00000377517.4:n.74+448C>T | |
| ENST00000428797.7:c.74+448C>T | ENSP00000393097.2:n.74+448C>T | |
| ENST00000437025.6:c.74+448C>T | ENSP00000415441.2:n.74+448C>T | |
| ENST00000519621.2:c.74+448C>T | ENSP00000430435.2:n.74+448C>T | |
| ENST00000521339.5:c.92+448C>T | ENSP00000430895.1:n.92+448C>T | |
| ENST00000522651.6:c.137+448C>T | ENSP00000430507.2:n.137+448C>T | |
| ENST00000634335.1:c.74+448C>T | ENSP00000489434.1:n.74+448C>T | |
| ENST00000635096.1:c.74+448C>T | ENSP00000489033.1:n.74+448C>T | |
| NM_000806.5:c.74+448C>T | NP_000797.2:n.74+448C>T | |
| NM_001127643.1:c.74+448C>T | NP_001121115.1:n.74+448C>T | |
| NM_001127644.1:c.74+448C>T | NP_001121116.1:n.74+448C>T | |
| NM_001127645.1:c.74+448C>T | NP_001121117.1:n.74+448C>T | |
| NM_001127648.1:c.74+448C>T | NP_001121120.1:n.74+448C>T | |
| NM_001127644.2:c.74+448C>T MANE Select | NP_001121116.1:n.74+448C>T | |
| NM_001127643.2:c.74+448C>T | NP_001121115.1:n.74+448C>T | |
| NM_001127645.2:c.74+448C>T | NP_001121117.1:n.74+448C>T | |
| NM_001127648.2:c.74+448C>T | NP_001121120.1:n.74+448C>T |