Linked Data
dbSNP Id:
rs1397704449
gnomAD v2:
2-26700646-G-T
gnomAD v3:
2-26477778-G-T
gnomAD v4:
2-26477778-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26477778G>T , CM000664.2:g.26477778G>T | GRCh38 |
| NC_000002.11:g.26700646G>T , CM000664.1:g.26700646G>T | GRCh37 |
| NC_000002.10:g.26554150G>T | NCBI36 |
| NG_009937.1:g.85921C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.2215-29C>A MANE Select | ENSP00000272371.2:n.2215-29C>A | |
| ENST00000339598.8:c.-27-29C>A MANE Plus Clinical | ENSP00000344521.3:n.-27-29C>A | |
| ENST00000402415.8:c.-56C>A | ENSP00000383906.4:n.-56C>A | |
| ENST00000272371.6:c.2215-29C>A | ENSP00000272371.2:n.2215-29C>A | |
| ENST00000338581.10:c.-27-29C>A | ENSP00000345137.6:n.-27-29C>A | |
| ENST00000339598.7:c.-27-29C>A | ENSP00000344521.3:n.-27-29C>A | |
| ENST00000402415.7:c.116C>A | ENSP00000383906.3:p.Pro39His | |
| ENST00000403946.7:c.2215-29C>A | ENSP00000385255.3:n.2215-29C>A | |
| NM_001287489.1:c.2215-29C>A | NP_001274418.1:n.2215-29C>A | |
| NM_004802.3:c.-27-29C>A | NP_004793.2:n.-27-29C>A | |
| NM_194248.2:c.2215-29C>A | NP_919224.1:n.2215-29C>A | |
| NM_194322.2:c.116C>A | NP_919303.1:p.Pro39His | |
| NM_194323.2:c.-27-29C>A | NP_919304.1:n.-27-29C>A | |
| XM_005264644.2:c.2260-29C>A | XP_005264701.1:n.2260-29C>A | |
| XM_011533185.1:c.2260-29C>A | XP_011531487.1:n.2260-29C>A | |
| XM_017005338.1:c.2215-29C>A | XP_016860827.1:n.2215-29C>A | |
| NM_001287489.2:c.2215-29C>A | NP_001274418.1:n.2215-29C>A | |
| NM_004802.4:c.-27-29C>A | NP_004793.2:n.-27-29C>A | |
| NM_194248.3:c.2215-29C>A MANE Select | NP_919224.1:n.2215-29C>A | |
| NM_194322.3:c.116C>A | NP_919303.1:p.Pro39His | |
| NM_194323.3:c.-27-29C>A MANE Plus Clinical | NP_919304.1:n.-27-29C>A |