Linked Data
dbSNP Id:
rs905615042
gnomAD v2:
14-69392381-C-T
gnomAD v3:
14-68925664-C-T
gnomAD v4:
14-68925664-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.68925664C>T , CM000676.2:g.68925664C>T | GRCh38 |
| NC_000014.8:g.69392381C>T , CM000676.1:g.69392381C>T | GRCh37 |
| NC_000014.7:g.68462134C>T | NCBI36 |
| NG_029480.1:g.58703G>A , LRG_886:g.58703G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554508.6:c.-82G>A | ENSP00000507578.1:n.-82G>A | |
| ENST00000682130.1:n.402G>A | ||
| ENST00000682291.1:c.114G>A | ENSP00000507093.1:p.Thr38= | |
| ENST00000682298.1:n.402G>A | ||
| ENST00000682331.1:c.114G>A | ENSP00000508329.1:p.Thr38= | |
| ENST00000682378.1:n.402G>A | ||
| ENST00000682381.1:n.402G>A | ||
| ENST00000682559.1:c.114G>A | ENSP00000507271.1:p.Thr38= | |
| ENST00000682602.1:n.208G>A | ||
| ENST00000683069.1:n.402G>A | ||
| ENST00000683198.1:c.114G>A | ENSP00000507889.1:p.Thr38= | |
| ENST00000683225.1:c.-82G>A | ENSP00000506977.1:n.-82G>A | |
| ENST00000683261.1:n.402G>A | ||
| ENST00000683267.1:c.114G>A | ENSP00000508356.1:p.Thr38= | |
| ENST00000683342.1:c.114G>A | ENSP00000508301.1:p.Thr38= | |
| ENST00000683780.1:n.402G>A | ||
| ENST00000684146.1:n.402G>A | ||
| ENST00000684182.1:c.-82G>A | ENSP00000508177.1:n.-82G>A | |
| ENST00000684340.1:n.402G>A | ||
| ENST00000684598.1:c.114G>A | ENSP00000507785.1:p.Thr38= | |
| ENST00000684638.1:c.114G>A | ENSP00000507609.1:p.Thr38= | |
| ENST00000684639.1:c.114G>A | ENSP00000507653.1:p.Thr38= | |
| ENST00000684713.1:c.114G>A | ENSP00000507155.1:p.Thr38= | |
| ENST00000394419.9:c.114G>A MANE Select | ENSP00000377941.4:p.Thr38= | |
| ENST00000679147.1:c.114G>A | ENSP00000504355.1:p.Thr38= | |
| ENST00000193403.10:c.114G>A | ENSP00000193403.6:p.Thr38= | |
| ENST00000376839.7:c.-82G>A | ENSP00000366035.3:n.-82G>A | |
| ENST00000394419.8:c.114G>A | ENSP00000377941.4:p.Thr38= | |
| ENST00000438964.6:c.114G>A | ENSP00000414272.2:p.Thr38= | |
| ENST00000538545.6:c.114G>A | ENSP00000439828.2:p.Thr38= | |
| ENST00000553370.5:c.-82G>A | ENSP00000450925.1:n.-82G>A | |
| ENST00000553659.1:c.111G>A | ENSP00000451086.1:p.Thr37= | |
| ENST00000553779.5:c.-82G>A | ENSP00000450618.1:n.-82G>A | |
| ENST00000555616.5:c.-82G>A | ENSP00000450903.1:n.-82G>A | |
| ENST00000556433.5:c.51G>A | ENSP00000450764.1:p.Thr17= | |
| ENST00000556571.1:c.45G>A | ENSP00000452423.1:p.Thr15= | |
| NM_001102.3:c.114G>A | NP_001093.1:p.Thr38= | |
| NM_001130004.1:c.114G>A , LRG_886t1:c.114G>A | NP_001123476.1:p.Thr38= | |
| NM_001130005.1:c.114G>A | NP_001123477.1:p.Thr38= | |
| XM_011537265.1:c.201G>A | XP_011535567.1:p.Thr67= | |
| XM_011537266.1:c.201G>A | XP_011535568.1:p.Thr67= | |
| XM_011537267.1:c.201G>A | XP_011535569.1:p.Thr67= | |
| XM_011537268.1:c.201G>A | XP_011535570.1:p.Thr67= | |
| XM_011537269.1:c.114G>A | XP_011535571.1:p.Thr38= | |
| XM_011537270.1:c.51G>A | XP_011535572.1:p.Thr17= | |
| XM_011537271.1:c.51G>A | XP_011535573.1:p.Thr17= | |
| XM_011537265.2:c.201G>A | XP_011535567.1:p.Thr67= | |
| XM_011537266.3:c.201G>A | XP_011535568.1:p.Thr67= | |
| XM_011537267.3:c.201G>A | XP_011535569.1:p.Thr67= | |
| XM_011537268.3:c.201G>A | XP_011535570.1:p.Thr67= | |
| XM_017021720.1:c.201G>A | XP_016877209.1:p.Thr67= | |
| XM_017021721.2:c.201G>A | XP_016877210.1:p.Thr67= | |
| XM_017021722.2:c.114G>A | XP_016877211.1:p.Thr38= | |
| XM_017021723.2:c.114G>A | XP_016877212.1:p.Thr38= | |
| XM_017021725.1:c.51G>A | XP_016877214.1:p.Thr17= | |
| XM_017021726.2:c.51G>A | XP_016877215.1:p.Thr17= | |
| XM_017021727.2:c.114G>A | XP_016877216.1:p.Thr38= | |
| XM_017021728.2:c.51G>A | XP_016877217.1:p.Thr17= | |
| NM_001102.4:c.114G>A | NP_001093.1:p.Thr38= | |
| NM_001130005.2:c.114G>A | NP_001123477.1:p.Thr38= | |
| NM_001130004.2:c.114G>A MANE Select | NP_001123476.1:p.Thr38= |