Linked Data
dbSNP Id:
rs2545797
gnomAD v2:
5-176864202-T-C
gnomAD v3:
5-177437201-T-C
gnomAD v4:
5-177437201-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177437201T>C , CM000667.2:g.177437201T>C | GRCh38 |
| NC_000005.9:g.176864202T>C , CM000667.1:g.176864202T>C | GRCh37 |
| NC_000005.8:g.176796808T>C | NCBI36 |
| NG_031981.1:g.15516T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355472.10:c.1404+671T>C MANE Select | ENSP00000347655.5:n.1404+671T>C | |
| ENST00000355472.9:c.1404+671T>C | ENSP00000347655.5:n.1404+671T>C | |
| ENST00000355958.9:c.1404+671T>C | ENSP00000348230.5:n.1404+671T>C | |
| ENST00000393576.7:c.1302+671T>C | ENSP00000377204.3:n.1302+671T>C | |
| ENST00000515666.5:n.1540+671T>C | ||
| ENST00000528793.5:c.1404+671T>C | ENSP00000433511.1:n.1404+671T>C | |
| NM_001004105.2:c.1404+671T>C | NP_001004105.1:n.1404+671T>C | |
| NM_001004106.2:c.1404+671T>C | NP_001004106.1:n.1404+671T>C | |
| NM_002082.3:c.1404+671T>C | NP_002073.2:n.1404+671T>C | |
| XM_006714858.2:c.1314+671T>C | XP_006714921.1:n.1314+671T>C | |
| XM_006714859.2:c.1308+671T>C | XP_006714922.1:n.1308+671T>C | |
| XM_011534537.1:c.1287+671T>C | XP_011532839.1:n.1287+671T>C | |
| XM_011534538.1:c.609+671T>C | XP_011532840.1:n.609+671T>C | |
| NM_001364164.1:c.774+671T>C | NP_001351093.1:n.774+671T>C | |
| XM_006714858.3:c.1314+671T>C | XP_006714921.1:n.1314+671T>C | |
| XM_011534537.2:c.1287+671T>C | XP_011532839.1:n.1287+671T>C | |
| XM_024446032.1:c.774+671T>C | XP_024301800.1:n.774+671T>C | |
| NM_001004106.3:c.1404+671T>C MANE Select | NP_001004106.1:n.1404+671T>C | |
| NM_001004105.3:c.1404+671T>C | NP_001004105.1:n.1404+671T>C | |
| NM_001364164.2:c.774+671T>C | NP_001351093.1:n.774+671T>C | |
| NM_002082.4:c.1404+671T>C | NP_002073.2:n.1404+671T>C |