Linked Data
dbSNP Id:
rs1448244590
gnomAD v2:
5-67548175-G-T
gnomAD v3:
5-68252347-G-T
gnomAD v4:
5-68252347-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.68252347G>T , CM000667.2:g.68252347G>T | GRCh38 |
| NC_000005.9:g.67548175G>T , CM000667.1:g.67548175G>T | GRCh37 |
| NC_000005.8:g.67583931G>T | NCBI36 |
| NG_012849.2:g.41592G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517412.2:n.935-21043G>T | ||
| ENST00000517643.2:c.335-21043G>T | ENSP00000513333.1:n.335-21043G>T | |
| ENST00000521657.6:c.335-21043G>T | ENSP00000429277.1:n.335-21043G>T | |
| ENST00000697457.1:c.335-21043G>T | ENSP00000513315.1:n.335-21043G>T | |
| ENST00000697458.1:c.335-21043G>T | ENSP00000513316.1:n.335-21043G>T | |
| ENST00000697460.1:c.-191-21043G>T | ENSP00000513318.1:n.-191-21043G>T | |
| ENST00000697461.1:c.335-21043G>T | ENSP00000513319.1:n.335-21043G>T | |
| ENST00000697556.1:c.335-21592G>T | ENSP00000513334.1:n.335-21592G>T | |
| ENST00000521381.6:c.335-21043G>T MANE Select | ENSP00000428056.1:n.335-21043G>T | |
| ENST00000517412.1:n.574-21043G>T | ||
| ENST00000520675.1:c.40+12410G>T | ENSP00000428566.1:n.40+12410G>T | |
| ENST00000521381.5:c.335-21043G>T | ENSP00000428056.1:n.335-21043G>T | |
| ENST00000521657.5:c.335-21043G>T | ENSP00000429277.1:n.335-21043G>T | |
| NM_181523.2:c.335-21043G>T | NP_852664.1:n.335-21043G>T | |
| XM_005248542.2:c.335-21043G>T | XP_005248599.1:n.335-21043G>T | |
| XM_011543493.1:c.7+89G>T | XP_011541795.1:n.7+89G>T | |
| XM_005248542.3:c.335-21043G>T | XP_005248599.1:n.335-21043G>T | |
| XM_011543493.3:c.7+89G>T | XP_011541795.1:n.7+89G>T | |
| XM_017009585.2:c.335-21043G>T | XP_016865074.1:n.335-21043G>T | |
| XM_017009586.1:c.61+12410G>T | XP_016865075.1:n.61+12410G>T | |
| NM_181523.3:c.335-21043G>T MANE Select | NP_852664.1:n.335-21043G>T |