Linked Data
dbSNP Id:
rs1376529361
gnomAD v2:
4-170994930-G-A
gnomAD v3:
4-170073779-G-A
gnomAD v4:
4-170073779-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.170073779G>A , CM000666.2:g.170073779G>A | GRCh38 |
| NC_000004.11:g.170994930G>A , CM000666.1:g.170994930G>A | GRCh37 |
| NC_000004.10:g.171231505G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337664.9:c.445-434C>T MANE Select | ENSP00000336808.4:n.445-434C>T | |
| ENST00000337664.8:c.445-434C>T | ENSP00000336808.4:n.445-434C>T | |
| ENST00000353187.6:c.445-434C>T | ENSP00000226840.4:n.445-434C>T | |
| ENST00000502392.1:c.445-434C>T | ENSP00000423843.1:n.445-434C>T | |
| ENST00000505906.1:n.244-434C>T | ||
| ENST00000507375.5:c.445-434C>T | ENSP00000421389.1:n.445-434C>T | |
| ENST00000509167.5:c.457-434C>T | ENSP00000423190.1:n.457-434C>T | |
| ENST00000510340.5:c.418-434C>T | ENSP00000425067.1:n.418-434C>T | |
| ENST00000515480.5:c.445-434C>T | ENSP00000423341.1:n.445-434C>T | |
| NM_001286682.1:c.457-434C>T | NP_001273611.1:n.457-434C>T | |
| NM_001286683.1:c.445-434C>T | NP_001273612.1:n.445-434C>T | |
| NM_016228.3:c.445-434C>T | NP_057312.1:n.445-434C>T | |
| NM_182662.1:c.445-434C>T | NP_872603.1:n.445-434C>T | |
| XM_006714231.2:c.562-434C>T | XP_006714294.1:n.562-434C>T | |
| XM_011532020.1:c.100-434C>T | XP_011530322.1:n.100-434C>T | |
| XM_011532020.2:c.100-434C>T | XP_011530322.1:n.100-434C>T | |
| XM_024454077.1:c.445-434C>T | XP_024309845.1:n.445-434C>T | |
| NM_016228.4:c.445-434C>T MANE Select | NP_057312.1:n.445-434C>T | |
| NM_001286682.2:c.457-434C>T | NP_001273611.1:n.457-434C>T | |
| NM_182662.2:c.445-434C>T | NP_872603.1:n.445-434C>T |