Linked Data
dbSNP Id:
rs11741808
gnomAD v2:
5-141004331-A-G
gnomAD v3:
5-141624764-A-G
gnomAD v4:
5-141624764-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141624764A>G , CM000667.2:g.141624764A>G | GRCh38 |
| NC_000005.9:g.141004331A>G , CM000667.1:g.141004331A>G | GRCh37 |
| NC_000005.8:g.140984515A>G | NCBI36 |
| NG_029678.1:g.17093T>C | |
| NG_029678.2:g.17093T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305264.8:c.1217+444T>C MANE Select | ENSP00000302967.3:n.1217+444T>C | |
| ENST00000305264.7:c.1217+444T>C | ENSP00000302967.3:n.1217+444T>C | |
| ENST00000459727.5:n.471+444T>C | ||
| ENST00000469207.5:n.216+444T>C | ||
| ENST00000469550.6:n.1290+444T>C | ||
| NM_003883.3:c.1217+444T>C | NP_003874.2:n.1217+444T>C | |
| XM_011537697.1:c.656+444T>C | XP_011535999.1:n.656+444T>C | |
| XR_427789.2:n.231-1083A>G | ||
| XR_944336.1:n.1302+444T>C | ||
| NM_001355040.1:c.758+444T>C | NP_001341969.1:n.758+444T>C | |
| NM_001355041.1:c.656+444T>C | NP_001341970.1:n.656+444T>C | |
| NR_149164.1:n.1203+444T>C | ||
| NR_149165.1:n.1165+444T>C | ||
| NR_149166.1:n.1081+444T>C | ||
| NR_149168.1:n.1308+444T>C | ||
| NR_149169.1:n.1228+444T>C | ||
| NM_003883.4:c.1217+444T>C MANE Select | NP_003874.2:n.1217+444T>C | |
| NM_001355040.2:c.758+444T>C | NP_001341969.1:n.758+444T>C | |
| NM_001355041.2:c.656+444T>C | NP_001341970.1:n.656+444T>C | |
| NR_149164.2:n.1196+444T>C | ||
| NR_149165.2:n.1158+444T>C | ||
| NR_149166.2:n.1074+444T>C | ||
| NR_149168.2:n.1301+444T>C | ||
| NR_149169.2:n.1221+444T>C |