Linked Data
dbSNP Id:
rs973640138
gnomAD v2:
19-10462990-C-T
gnomAD v3:
19-10352314-C-T
gnomAD v4:
19-10352314-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10352314C>T , CM000681.2:g.10352314C>T | GRCh38 |
| NC_000019.9:g.10462990C>T , CM000681.1:g.10462990C>T | GRCh37 |
| NC_000019.8:g.10323990C>T | NCBI36 |
| NG_007872.1:g.33259G>A , LRG_121:g.33259G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524470.2:c.*1667+120G>A | ENSP00000514307.1:n.*1667+120G>A | |
| ENST00000525976.6:c.3318+120G>A | ENSP00000434831.2:n.3318+120G>A | |
| ENST00000527481.3:c.*88+120G>A | ENSP00000466340.2:n.*88+120G>A | |
| ENST00000529370.6:n.4694+120G>A | ||
| ENST00000529739.2:n.4127+120G>A | ||
| ENST00000530829.2:c.*2869+120G>A | ENSP00000436826.2:n.*2869+120G>A | |
| ENST00000531836.6:c.3318+120G>A | ENSP00000436175.2:n.3318+120G>A | |
| ENST00000533334.2:c.*1242+612G>A | ENSP00000432320.2:n.*1242+612G>A | |
| ENST00000534228.2:n.5054+612G>A | ||
| ENST00000699354.1:n.1420+120G>A | ||
| ENST00000699355.1:c.*2818+120G>A | ENSP00000514328.1:n.*2818+120G>A | |
| ENST00000699356.1:n.4127+120G>A | ||
| ENST00000699357.1:n.5172+120G>A | ||
| ENST00000699358.1:c.3200+612G>A | ENSP00000514329.1:n.3200+612G>A | |
| ENST00000699359.1:c.492+120G>A | ||
| ENST00000699360.1:c.3276+120G>A | ENSP00000514331.1:n.3276+120G>A | |
| ENST00000699361.1:n.352+120G>A | ||
| ENST00000699362.1:c.214+120G>A | ENSP00000514332.1:n.214+120G>A | |
| ENST00000699363.1:c.214+120G>A | ENSP00000514333.1:n.214+120G>A | |
| ENST00000699364.1:n.318+120G>A | ||
| ENST00000699365.1:c.387+120G>A | ENSP00000514334.1:n.387+120G>A | |
| ENST00000699366.1:n.112-1346G>A | ||
| ENST00000699367.1:n.112-1152G>A | ||
| ENST00000699368.1:c.805+120G>A | ENSP00000514335.1:n.805+120G>A | |
| ENST00000525621.6:c.3318+120G>A MANE Select | ENSP00000431885.1:n.3318+120G>A | |
| ENST00000264818.10:c.3318+120G>A | ENSP00000264818.6:n.3318+120G>A | |
| ENST00000524462.5:c.2763+120G>A | ENSP00000433203.1:n.2763+120G>A | |
| ENST00000525621.5:c.3318+120G>A | ENSP00000431885.1:n.3318+120G>A | |
| ENST00000525976.5:c.59+120G>A | ||
| ENST00000527481.2:c.495+120G>A | ||
| ENST00000529422.1:n.116+708G>A | ||
| ENST00000530220.1:n.331+612G>A | ||
| ENST00000530560.5:c.338-1346G>A | ENSP00000465291.1:n.338-1346G>A | |
| ENST00000592137.1:n.472+120G>A | ||
| NM_003331.4:c.3318+120G>A , LRG_121t1:c.3318+120G>A | NP_003322.3:n.3318+120G>A | |
| XM_011528245.1:c.3318+120G>A | XP_011526547.1:n.3318+120G>A | |
| XM_011528246.1:c.3021+120G>A | XP_011526548.1:n.3021+120G>A | |
| XM_011528247.1:c.3021+120G>A | XP_011526549.1:n.3021+120G>A | |
| XM_011528248.1:c.3200+612G>A | XP_011526550.1:n.3200+612G>A | |
| XM_011528249.1:c.1992+120G>A | XP_011526551.1:n.1992+120G>A | |
| XM_011528251.1:c.1575+120G>A | XP_011526553.1:n.1575+120G>A | |
| XM_011528246.3:c.3021+120G>A | XP_011526548.1:n.3021+120G>A | |
| XM_011528249.2:c.1992+120G>A | XP_011526551.1:n.1992+120G>A | |
| XR_001753750.1:n.3357+612G>A | ||
| XR_001753751.1:n.3870+120G>A | ||
| XR_002958353.1:n.4796+120G>A | ||
| NM_003331.5:c.3318+120G>A MANE Select | NP_003322.3:n.3318+120G>A | |
| NM_001385197.1:c.3318+120G>A | NP_001372126.1:n.3318+120G>A | |
| NM_001385198.1:c.3168+644G>A | NP_001372127.1:n.3168+644G>A | |
| NM_001385199.1:c.3132+120G>A | NP_001372128.1:n.3132+120G>A | |
| NM_001385200.1:c.3315+120G>A | NP_001372129.1:n.3315+120G>A | |
| NM_001385201.1:c.3120+120G>A | NP_001372130.1:n.3120+120G>A | |
| NM_001385202.1:c.3234+120G>A | NP_001372131.1:n.3234+120G>A | |
| NM_001385203.1:c.3399+120G>A | NP_001372132.1:n.3399+120G>A | |
| NM_001385204.1:c.3528+120G>A | NP_001372133.1:n.3528+120G>A | |
| NM_001385205.1:c.3228+120G>A | NP_001372134.1:n.3228+120G>A | |
| NM_001385206.1:c.3192+120G>A | NP_001372135.1:n.3192+120G>A | |
| NM_001385207.1:c.3300+120G>A | NP_001372136.1:n.3300+120G>A |