Linked Data
dbSNP Id:
rs181519890
gnomAD v2:
4-87683715-T-C
gnomAD v3:
4-86762562-T-C
gnomAD v4:
4-86762562-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.86762562T>C , CM000666.2:g.86762562T>C | GRCh38 |
| NC_000004.11:g.87683715T>C , CM000666.1:g.87683715T>C | GRCh37 |
| NC_000004.10:g.87902739T>C | NCBI36 |
| NG_029704.1:g.173248T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411767.7:c.3554-165T>C MANE Select | ENSP00000407249.2:n.3554-165T>C | |
| ENST00000316707.10:c.2981-165T>C | ENSP00000322675.6:n.2981-165T>C | |
| ENST00000411767.6:c.3554-165T>C | ENSP00000407249.2:n.3554-165T>C | |
| ENST00000427191.6:c.3497-165T>C | ENSP00000408368.2:n.3497-165T>C | |
| ENST00000436978.5:c.3554-165T>C | ENSP00000394794.1:n.3554-165T>C | |
| ENST00000508063.1:n.250-165T>C | ||
| ENST00000511467.1:c.3554-165T>C | ENSP00000426626.1:n.3554-165T>C | |
| NM_006264.2:c.3497-165T>C | NP_006255.1:n.3497-165T>C | |
| NM_080683.2:c.3554-165T>C | NP_542414.1:n.3554-165T>C | |
| NM_080684.2:c.2981-165T>C | NP_542415.1:n.2981-165T>C | |
| NM_080685.2:c.3554-165T>C | NP_542416.1:n.3554-165T>C | |
| XM_005263167.1:c.3572-165T>C | XP_005263224.1:n.3572-165T>C | |
| XM_011532163.1:c.3572-165T>C | XP_011530465.1:n.3572-165T>C | |
| XM_011532164.1:c.3572-165T>C | XP_011530466.1:n.3572-165T>C | |
| XM_011532165.1:c.3554-165T>C | XP_011530467.1:n.3554-165T>C | |
| XM_011532166.1:c.3572-165T>C | XP_011530468.1:n.3572-165T>C | |
| XM_011532167.1:c.3515-165T>C | XP_011530469.1:n.3515-165T>C | |
| XM_011532168.1:c.3572-165T>C | XP_011530470.1:n.3572-165T>C | |
| XM_011532169.1:c.3515-165T>C | XP_011530471.1:n.3515-165T>C | |
| XM_011532170.1:c.3011-165T>C | XP_011530472.1:n.3011-165T>C | |
| XM_011532171.1:c.2999-165T>C | XP_011530473.1:n.2999-165T>C | |
| XM_011532172.1:c.2999-165T>C | XP_011530474.1:n.2999-165T>C | |
| XM_011532165.2:c.3554-165T>C | XP_011530467.1:n.3554-165T>C | |
| XM_017008511.2:c.3554-165T>C | XP_016864000.1:n.3554-165T>C | |
| XM_017008512.2:c.3497-165T>C | XP_016864001.1:n.3497-165T>C | |
| XM_017008513.2:c.3497-165T>C | XP_016864002.1:n.3497-165T>C | |
| XM_017008514.2:c.3497-165T>C | XP_016864003.1:n.3497-165T>C | |
| XM_017008515.2:c.2993-165T>C | XP_016864004.1:n.2993-165T>C | |
| XM_017008516.2:c.2981-165T>C | XP_016864005.1:n.2981-165T>C | |
| NM_080683.3:c.3554-165T>C MANE Select | NP_542414.1:n.3554-165T>C | |
| NM_006264.3:c.3497-165T>C | NP_006255.1:n.3497-165T>C | |
| NM_080684.3:c.2981-165T>C | NP_542415.1:n.2981-165T>C | |
| NM_080685.3:c.3554-165T>C | NP_542416.1:n.3554-165T>C |