Linked Data
dbSNP Id:
rs545190360
gnomAD v2:
5-177035822-G-T
gnomAD v3:
5-177608821-G-T
gnomAD v4:
5-177608821-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177608821G>T , CM000667.2:g.177608821G>T | GRCh38 |
| NC_000005.9:g.177035822G>T , CM000667.1:g.177035822G>T | GRCh37 |
| NC_000005.8:g.176968428G>T | NCBI36 |
| NG_015977.1:g.13704G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000029410.10:c.724-89G>T MANE Select | ENSP00000029410.5:n.724-89G>T | |
| ENST00000029410.9:c.724-89G>T | ENSP00000029410.5:n.724-89G>T | |
| ENST00000505145.1:n.1822-89G>T | ||
| ENST00000505433.5:c.*230-89G>T | ENSP00000425591.1:n.*230-89G>T | |
| ENST00000515353.1:n.1457G>T | ||
| NM_007255.2:c.724-89G>T | NP_009186.1:n.724-89G>T | |
| XM_005265805.2:c.382-89G>T | XP_005265862.1:n.382-89G>T | |
| XM_006714816.2:c.244-89G>T | XP_006714879.1:n.244-89G>T | |
| XM_011534421.1:c.382-89G>T | XP_011532723.1:n.382-89G>T | |
| XM_006714816.4:c.244-89G>T | XP_006714879.1:n.244-89G>T | |
| XM_017008999.2:c.382-89G>T | XP_016864488.1:n.382-89G>T | |
| NM_007255.3:c.724-89G>T MANE Select | NP_009186.1:n.724-89G>T |