Linked Data
dbSNP Id:
rs17174870
gnomAD v2:
2-112665201-C-T
gnomAD v3:
2-111907624-C-T
gnomAD v4:
2-111907624-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111907624C>T , CM000664.2:g.111907624C>T | GRCh38 |
| NC_000002.11:g.112665201C>T , CM000664.1:g.112665201C>T | GRCh37 |
| NC_000002.10:g.112381672C>T | NCBI36 |
| NG_011607.1:g.14011C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295408.9:c.61+8828C>T MANE Select | ENSP00000295408.4:n.61+8828C>T | |
| ENST00000295408.8:c.61+8828C>T | ENSP00000295408.4:n.61+8828C>T | |
| ENST00000409780.5:c.-47+8828C>T | ENSP00000387277.1:n.-47+8828C>T | |
| ENST00000421804.6:c.61+8828C>T | ENSP00000389152.2:n.61+8828C>T | |
| ENST00000439966.5:c.61+8828C>T | ENSP00000402129.1:n.61+8828C>T | |
| ENST00000616902.4:c.-1155+8828C>T | ENSP00000482824.1:n.-1155+8828C>T | |
| NM_006343.2:c.61+8828C>T | NP_006334.2:n.61+8828C>T | |
| XM_005263565.3:c.61+8828C>T | XP_005263622.1:n.61+8828C>T | |
| XM_005263568.3:c.61+8828C>T | XP_005263625.1:n.61+8828C>T | |
| XM_011510490.1:c.-129+8487C>T | XP_011508792.1:n.-129+8487C>T | |
| XM_005263565.4:c.61+8828C>T | XP_005263622.1:n.61+8828C>T | |
| XM_005263568.4:c.61+8828C>T | XP_005263625.1:n.61+8828C>T | |
| XM_011510490.3:c.-129+8487C>T | XP_011508792.1:n.-129+8487C>T | |
| XM_017003165.2:c.-1207+8828C>T | XP_016858654.1:n.-1207+8828C>T | |
| NM_006343.3:c.61+8828C>T MANE Select | NP_006334.2:n.61+8828C>T |