Linked Data
dbSNP Id:
rs1453289444
gnomAD v2:
5-15784019-T-G
gnomAD v3:
5-15783910-T-G
gnomAD v4:
5-15783910-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.15783910T>G , CM000667.2:g.15783910T>G | GRCh38 |
| NC_000005.9:g.15784019T>G , CM000667.1:g.15784019T>G | GRCh37 |
| NC_000005.8:g.15837019T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504595.2:c.128-143980T>G MANE Select | ENSP00000423630.1:n.128-143980T>G | |
| ENST00000504595.1:c.128-143980T>G | ENSP00000423630.1:n.128-143980T>G | |
| ENST00000510662.1:c.-14-143980T>G | ENSP00000425184.1:n.-14-143980T>G | |
| NM_001278317.1:c.-14-143980T>G | NP_001265246.1:n.-14-143980T>G | |
| NM_012304.4:c.128-143980T>G | NP_036436.1:n.128-143980T>G | |
| XM_005248273.3:c.113-143980T>G | XP_005248330.1:n.113-143980T>G | |
| XM_011513998.1:c.-91-50867T>G | XP_011512300.1:n.-91-50867T>G | |
| XM_017009262.2:c.113-143980T>G | XP_016864751.1:n.113-143980T>G | |
| NM_012304.5:c.128-143980T>G MANE Select | NP_036436.1:n.128-143980T>G | |
| NM_001278317.2:c.-14-143980T>G | NP_001265246.1:n.-14-143980T>G |