Linked Data
dbSNP Id:
rs142697907
gnomAD v2:
1-214683506-A-G
gnomAD v3:
1-214510163-A-G
gnomAD v4:
1-214510163-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.214510163A>G , CM000663.2:g.214510163A>G | GRCh38 |
| NC_000001.10:g.214683506A>G , CM000663.1:g.214683506A>G | GRCh37 |
| NC_000001.9:g.212750129A>G | NCBI36 |
| NG_028036.1:g.46519T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366956.10:c.-155+41020T>C MANE Select | ENSP00000355923.4:n.-155+41020T>C | |
| ENST00000366956.9:c.-155+41020T>C | ENSP00000355923.4:n.-155+41020T>C | |
| ENST00000486173.1:n.231+41020T>C | ||
| ENST00000543945.5:c.-155+41020T>C | ENSP00000443330.1:n.-155+41020T>C | |
| NM_005401.4:c.-155+41020T>C | NP_005392.2:n.-155+41020T>C | |
| XR_247032.3:n.420+41020T>C | ||
| XM_017001941.1:c.-155+23154T>C | XP_016857430.1:n.-155+23154T>C | |
| XM_024448759.1:c.-155+22301T>C | XP_024304527.1:n.-155+22301T>C | |
| NM_005401.5:c.-155+41020T>C MANE Select | NP_005392.2:n.-155+41020T>C |