Linked Data
dbSNP Id:
rs1868505
gnomAD v2:
3-54421255-T-C
gnomAD v3:
3-54387228-T-C
gnomAD v4:
3-54387228-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.54387228T>C , CM000665.2:g.54387228T>C | GRCh38 |
| NC_000003.11:g.54421255T>C , CM000665.1:g.54421255T>C | GRCh37 |
| NC_000003.10:g.54396295T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474759.6:c.381+454T>C MANE Select | ENSP00000419101.1:n.381+454T>C | |
| ENST00000288197.9:c.381+454T>C | ENSP00000288197.5:n.381+454T>C | |
| ENST00000415676.6:c.381+454T>C | ENSP00000389506.2:n.381+454T>C | |
| ENST00000468658.1:c.99+454T>C | ENSP00000417455.1:n.99+454T>C | |
| ENST00000471363.5:c.99+454T>C | ENSP00000418228.1:n.99+454T>C | |
| ENST00000474759.5:c.381+454T>C | ENSP00000419101.1:n.381+454T>C | |
| ENST00000477024.5:c.99+454T>C | ENSP00000417318.1:n.99+454T>C | |
| ENST00000490478.5:c.99+454T>C | ENSP00000417279.1:n.99+454T>C | |
| ENST00000492460.5:c.99+454T>C | ENSP00000418028.1:n.99+454T>C | |
| ENST00000620722.4:c.99+454T>C | ENSP00000478969.1:n.99+454T>C | |
| NM_018398.2:c.381+454T>C | NP_060868.2:n.381+454T>C | |
| XM_005265318.1:c.381+454T>C | XP_005265375.1:n.381+454T>C | |
| XM_011533946.1:c.381+454T>C | XP_011532248.1:n.381+454T>C | |
| XM_011533947.1:c.381+454T>C | XP_011532249.1:n.381+454T>C | |
| XM_011533948.1:c.381+454T>C | XP_011532250.1:n.381+454T>C | |
| XM_011533949.1:c.381+454T>C | XP_011532251.1:n.381+454T>C | |
| XM_011533950.1:c.381+454T>C | XP_011532252.1:n.381+454T>C | |
| XM_011533951.1:c.381+454T>C | XP_011532253.1:n.381+454T>C | |
| XM_011533952.1:c.381+454T>C | XP_011532254.1:n.381+454T>C | |
| XM_011533953.1:c.381+454T>C | XP_011532255.1:n.381+454T>C | |
| XR_427281.1:n.502+454T>C | ||
| XR_427282.2:n.502+454T>C | ||
| XR_940472.1:n.502+454T>C | ||
| XR_940473.1:n.502+454T>C | ||
| XM_005265318.2:c.381+454T>C | XP_005265375.1:n.381+454T>C | |
| XM_011533946.2:c.381+454T>C | XP_011532248.1:n.381+454T>C | |
| XM_011533947.2:c.381+454T>C | XP_011532249.1:n.381+454T>C | |
| XM_011533949.2:c.381+454T>C | XP_011532251.1:n.381+454T>C | |
| XM_011533950.2:c.381+454T>C | XP_011532252.1:n.381+454T>C | |
| XM_011533951.2:c.381+454T>C | XP_011532253.1:n.381+454T>C | |
| XM_011533952.2:c.381+454T>C | XP_011532254.1:n.381+454T>C | |
| XM_011533953.2:c.381+454T>C | XP_011532255.1:n.381+454T>C | |
| XM_017006850.1:c.381+454T>C | XP_016862339.1:n.381+454T>C | |
| XM_017006852.1:c.381+454T>C | XP_016862341.1:n.381+454T>C | |
| XM_024453640.1:c.99+454T>C | XP_024309408.1:n.99+454T>C | |
| XR_001740203.1:n.501+454T>C | ||
| XR_001740204.1:n.501+454T>C | ||
| XR_001740205.1:n.501+454T>C | ||
| XR_002959549.1:n.501+454T>C | ||
| XR_427281.2:n.501+454T>C | ||
| XR_940472.2:n.501+454T>C | ||
| XR_940473.2:n.501+454T>C | ||
| NM_018398.3:c.381+454T>C MANE Select | NP_060868.2:n.381+454T>C |