Linked Data
ClinVar Variation Id:
3116014
ClinVar RCV Id:
RCV004409810
dbSNP Id:
rs373479151
ExAC:
7:151845921 A / G
gnomAD v2:
7-151845921-A-G
gnomAD v3:
7-152148836-A-G
gnomAD v4:
7-152148836-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152148836A>G , CM000669.2:g.152148836A>G | GRCh38 |
| NC_000007.13:g.151845921A>G , CM000669.1:g.151845921A>G | GRCh37 |
| NC_000007.12:g.151476854A>G | NCBI36 |
| NG_033948.1:g.292170T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682040.1:c.1279T>C | ||
| ENST00000682116.1:n.2223T>C | ||
| ENST00000682283.1:c.13262T>C | ENSP00000507485.1:p.Ile4421Thr | |
| ENST00000682629.1:n.2391T>C | ||
| ENST00000683120.1:n.8283T>C | ||
| ENST00000683178.1:c.3664T>C | ||
| ENST00000683200.1:c.10601T>C | ENSP00000508052.1:p.Ile3534Thr | |
| ENST00000683337.1:n.4721T>C | ||
| ENST00000683502.1:c.3736T>C | ||
| ENST00000683621.1:n.1857T>C | ||
| ENST00000683640.1:n.1807T>C | ||
| ENST00000684069.1:c.1508T>C | ENSP00000507650.1:p.Ile503Thr | |
| ENST00000684261.1:c.7988T>C | ENSP00000508097.1:p.Ile2663Thr | |
| ENST00000684649.1:c.3736T>C | ||
| ENST00000262189.11:c.13091T>C MANE Select | ENSP00000262189.6:p.Ile4364Thr | |
| ENST00000360104.8:c.8878T>C | ||
| ENST00000418061.2:c.3733T>C | ||
| ENST00000424877.6:c.3667T>C | ||
| ENST00000679393.1:n.7802T>C | ||
| ENST00000679560.1:c.7991T>C | ENSP00000505094.1:p.Ile2664Thr | |
| ENST00000679882.1:c.12656T>C | ENSP00000506154.1:p.Ile4219Thr | |
| ENST00000680029.1:c.3668T>C | ||
| ENST00000680877.1:c.7991T>C | ENSP00000505724.1:p.Ile2664Thr | |
| ENST00000681923.1:n.2106T>C | ||
| ENST00000262189.10:c.13091T>C | ENSP00000262189.6:p.Ile4364Thr | |
| ENST00000355193.6:c.13091T>C | ENSP00000347325.3:p.Ile4364Thr | |
| ENST00000360104.7:c.5772T>C | ||
| ENST00000424877.5:c.2942T>C | ENSP00000410411.1:p.Ile981Thr | |
| ENST00000473186.5:n.10973T>C | ||
| ENST00000558084.5:c.*10611T>C | ENSP00000453752.1:n.*10611T>C | |
| NM_170606.2:c.13091T>C | NP_733751.2:p.Ile4364Thr | |
| XM_005250025.3:c.13307T>C | XP_005250082.1:p.Ile4436Thr | |
| XM_005250026.2:c.13304T>C | XP_005250083.1:p.Ile4435Thr | |
| XM_005250027.3:c.13304T>C | XP_005250084.1:p.Ile4435Thr | |
| XM_005250028.3:c.13307T>C | XP_005250085.1:p.Ile4436Thr | |
| XM_005250031.3:c.13142T>C | XP_005250088.1:p.Ile4381Thr | |
| XM_006716077.2:c.13304T>C | XP_006716140.1:p.Ile4435Thr | |
| XM_006716078.2:c.13235T>C | XP_006716141.1:p.Ile4412Thr | |
| XM_006716079.2:c.13139T>C | XP_006716142.1:p.Ile4380Thr | |
| XM_011516450.1:c.13259T>C | XP_011514752.1:p.Ile4420Thr | |
| XM_011516451.1:c.13187T>C | XP_011514753.1:p.Ile4396Thr | |
| XM_011516452.1:c.13154T>C | XP_011514754.1:p.Ile4385Thr | |
| XM_011516453.1:c.13070T>C | XP_011514755.1:p.Ile4357Thr | |
| XM_011516454.1:c.12392T>C | XP_011514756.1:p.Ile4131Thr | |
| XM_011516455.1:c.10853T>C | XP_011514757.1:p.Ile3618Thr | |
| XM_011516456.1:c.13259T>C | XP_011514758.1:p.Ile4420Thr | |
| XM_005250025.4:c.13307T>C | XP_005250082.1:p.Ile4436Thr | |
| XM_005250026.3:c.13304T>C | XP_005250083.1:p.Ile4435Thr | |
| XM_005250027.4:c.13304T>C | XP_005250084.1:p.Ile4435Thr | |
| XM_005250028.4:c.13307T>C | XP_005250085.1:p.Ile4436Thr | |
| XM_005250031.4:c.13142T>C | XP_005250088.1:p.Ile4381Thr | |
| XM_006716077.3:c.13304T>C | XP_006716140.1:p.Ile4435Thr | |
| XM_006716078.3:c.13235T>C | XP_006716141.1:p.Ile4412Thr | |
| XM_006716079.3:c.13139T>C | XP_006716142.1:p.Ile4380Thr | |
| XM_011516450.2:c.13259T>C | XP_011514752.1:p.Ile4420Thr | |
| XM_011516451.2:c.13187T>C | XP_011514753.1:p.Ile4396Thr | |
| XM_011516452.2:c.13154T>C | XP_011514754.1:p.Ile4385Thr | |
| XM_011516453.2:c.13070T>C | XP_011514755.1:p.Ile4357Thr | |
| XM_011516454.2:c.12392T>C | XP_011514756.1:p.Ile4131Thr | |
| XM_011516456.2:c.13259T>C | XP_011514758.1:p.Ile4420Thr | |
| XM_017012480.1:c.13307T>C | XP_016867969.1:p.Ile4436Thr | |
| XM_017012481.1:c.13304T>C | XP_016867970.1:p.Ile4435Thr | |
| XM_017012482.1:c.13304T>C | XP_016867971.1:p.Ile4435Thr | |
| XM_017012483.1:c.13304T>C | XP_016867972.1:p.Ile4435Thr | |
| XM_017012484.1:c.13274T>C | XP_016867973.1:p.Ile4425Thr | |
| XM_017012485.1:c.13256T>C | XP_016867974.1:p.Ile4419Thr | |
| XM_017012486.1:c.13232T>C | XP_016867975.1:p.Ile4411Thr | |
| XM_017012487.1:c.13160T>C | XP_016867976.1:p.Ile4387Thr | |
| XM_017012488.1:c.13124T>C | XP_016867977.1:p.Ile4375Thr | |
| XM_017012489.1:c.9977T>C | XP_016867978.1:p.Ile3326Thr | |
| XM_017012490.2:c.9581T>C | XP_016867979.1:p.Ile3194Thr | |
| XM_024446852.1:c.13304T>C | XP_024302620.1:p.Ile4435Thr | |
| XM_024446853.1:c.13232T>C | XP_024302621.1:p.Ile4411Thr | |
| NM_170606.3:c.13091T>C MANE Select | NP_733751.2:p.Ile4364Thr |