Linked Data
dbSNP Id:
rs478665
gnomAD v2:
1-65515533-A-G
gnomAD v3:
1-65049850-A-G
gnomAD v4:
1-65049850-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.65049850A>G , CM000663.2:g.65049850A>G | GRCh38 |
| NC_000001.10:g.65515533A>G , CM000663.1:g.65515533A>G | GRCh37 |
| NC_000001.9:g.65288121A>G | NCBI36 |
| NG_023402.2:g.22897T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000671954.2:c.-180-5268T>C | ENSP00000500841.1:n.-180-5268T>C | |
| ENST00000672434.2:c.-162+16778T>C | ENSP00000499900.1:n.-162+16778T>C | |
| ENST00000672751.2:c.-78+17754T>C | ENSP00000500745.2:n.-78+17754T>C | |
| ENST00000673502.2:n.374+16271T>C | ||
| ENST00000699263.1:c.-387+17754T>C | ENSP00000514244.1:n.-387+17754T>C | |
| ENST00000699312.1:c.-78+16778T>C | ENSP00000514291.1:n.-78+16778T>C | |
| ENST00000699314.1:c.-856+17754T>C | ENSP00000514294.1:n.-856+17754T>C | |
| ENST00000671954.1:c.-180-5268T>C | ENSP00000500841.1:n.-180-5268T>C | |
| ENST00000672099.1:c.-384+17754T>C | ENSP00000500328.1:n.-384+17754T>C | |
| ENST00000672434.1:c.-162+16778T>C | ENSP00000499900.1:n.-162+16778T>C | |
| ENST00000672751.1:c.-78+17754T>C | ENSP00000500745.1:n.-78+17754T>C | |
| ENST00000673502.1:c.-78+16271T>C | ENSP00000500011.1:n.-78+16271T>C | |
| XM_011542510.1:c.231-926T>C | XP_011540812.1:n.231-926T>C | |
| NM_001321852.1:c.-78+17754T>C | NP_001308781.1:n.-78+17754T>C | |
| NM_001321853.1:c.-162+16778T>C | NP_001308782.1:n.-162+16778T>C | |
| NM_001321854.1:c.-78+16778T>C | NP_001308783.1:n.-78+16778T>C | |
| NM_001321852.2:c.-78+17754T>C | NP_001308781.1:n.-78+17754T>C | |
| NM_001321853.2:c.-162+16778T>C | NP_001308782.1:n.-162+16778T>C | |
| NM_001321854.2:c.-78+16778T>C | NP_001308783.1:n.-78+16778T>C |