Linked Data
dbSNP Id:
rs904428008
gnomAD v2:
5-15783598-G-T
gnomAD v3:
5-15783489-G-T
gnomAD v4:
5-15783489-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.15783489G>T , CM000667.2:g.15783489G>T | GRCh38 |
| NC_000005.9:g.15783598G>T , CM000667.1:g.15783598G>T | GRCh37 |
| NC_000005.8:g.15836598G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504595.2:c.128-144401G>T MANE Select | ENSP00000423630.1:n.128-144401G>T | |
| ENST00000504595.1:c.128-144401G>T | ENSP00000423630.1:n.128-144401G>T | |
| ENST00000510662.1:c.-14-144401G>T | ENSP00000425184.1:n.-14-144401G>T | |
| NM_001278317.1:c.-14-144401G>T | NP_001265246.1:n.-14-144401G>T | |
| NM_012304.4:c.128-144401G>T | NP_036436.1:n.128-144401G>T | |
| XM_005248273.3:c.113-144401G>T | XP_005248330.1:n.113-144401G>T | |
| XM_011513998.1:c.-91-51288G>T | XP_011512300.1:n.-91-51288G>T | |
| XM_017009262.2:c.113-144401G>T | XP_016864751.1:n.113-144401G>T | |
| NM_012304.5:c.128-144401G>T MANE Select | NP_036436.1:n.128-144401G>T | |
| NM_001278317.2:c.-14-144401G>T | NP_001265246.1:n.-14-144401G>T |