Linked Data
ClinVar Variation Id:
457126
dbSNP Id:
rs142573103
ExAC:
7:91713984 G / C
gnomAD v2:
7-91713984-G-C
gnomAD v3:
7-92084670-G-C
gnomAD v4:
7-92084670-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92084670G>C , CM000669.2:g.92084670G>C | GRCh38 |
| NC_000007.13:g.91713984G>C , CM000669.1:g.91713984G>C | GRCh37 |
| NC_000007.12:g.91551920G>C | NCBI36 |
| NG_011623.1:g.148796G>C , LRG_331:g.148796G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.8677G>C MANE Select | ENSP00000348573.3:p.Asp2893His | |
| ENST00000359028.7:c.8749G>C | ENSP00000351922.4:p.Asp2917His | |
| ENST00000394534.7:c.2170G>C | ENSP00000378042.3:p.Asp724His | |
| ENST00000435423.2:n.517G>C | ||
| ENST00000491695.2:c.3322G>C | ENSP00000494626.2:p.Asp1108His | |
| ENST00000679448.1:c.8653G>C | ENSP00000505889.1:p.Asp2885His | |
| ENST00000679457.1:c.8653G>C | ENSP00000505450.1:p.Asp2885His | |
| ENST00000679474.1:n.8875G>C | ||
| ENST00000679521.1:c.8623G>C | ENSP00000505456.1:p.Asp2875His | |
| ENST00000679722.1:n.8899G>C | ||
| ENST00000679821.1:c.8419G>C | ENSP00000506040.1:p.Asp2807His | |
| ENST00000680047.1:n.8875G>C | ||
| ENST00000680072.1:c.8500G>C | ENSP00000506581.1:p.Asp2834His | |
| ENST00000680181.1:c.8584G>C | ENSP00000505548.1:p.Asp2862His | |
| ENST00000680365.1:c.2170G>C | ENSP00000506019.1:p.Asp724His | |
| ENST00000680513.1:c.8536G>C | ENSP00000505284.1:p.Asp2846His | |
| ENST00000680534.1:c.8716G>C | ENSP00000506674.1:p.Asp2906His | |
| ENST00000680766.1:c.8653G>C | ENSP00000505204.1:p.Asp2885His | |
| ENST00000680952.1:c.8653G>C | ENSP00000506407.1:p.Asp2885His | |
| ENST00000681216.1:c.2014G>C | ENSP00000505551.1:p.Asp672His | |
| ENST00000681412.1:c.8677G>C | ENSP00000506486.1:p.Asp2893His | |
| ENST00000681722.1:c.8653G>C | ENSP00000506566.1:p.Asp2885His | |
| ENST00000356239.7:c.8677G>C | ENSP00000348573.3:p.Asp2893His | |
| ENST00000358100.6:c.8536G>C | ENSP00000350813.3:p.Asp2846His | |
| ENST00000359028.6:c.8720-149G>C | ENSP00000351922.3:n.8720-149G>C | |
| ENST00000394534.6:c.2215G>C | ENSP00000378042.2:p.Asp739His | |
| ENST00000435423.1:c.111G>C | ||
| NM_005751.4:c.8677G>C , LRG_331t1:c.8677G>C | NP_005742.4:p.Asp2893His | |
| NM_147185.2:c.8653G>C | NP_671714.1:p.Asp2885His | |
| XM_006715827.1:c.8536G>C | XP_006715890.1:p.Asp2846His | |
| XM_011515709.1:c.8824G>C | XP_011514011.1:p.Asp2942His | |
| XM_011515710.1:c.8848G>C | XP_011514012.1:p.Asp2950His | |
| XM_011515711.1:c.8788G>C | XP_011514013.1:p.Asp2930His | |
| XM_011515712.1:c.8785G>C | XP_011514014.1:p.Asp2929His | |
| XM_011515713.1:c.8770G>C | XP_011514015.1:p.Asp2924His | |
| XM_011515714.1:c.8809G>C | XP_011514016.1:p.Asp2937His | |
| XM_011515716.1:c.8728G>C | XP_011514018.1:p.Asp2910His | |
| XM_011515717.1:c.8683G>C | XP_011514019.1:p.Asp2895His | |
| XM_011515718.1:c.8713G>C | XP_011514020.1:p.Asp2905His | |
| XM_011515719.1:c.8689G>C | XP_011514021.1:p.Asp2897His | |
| XM_011515720.1:c.8572G>C | XP_011514022.1:p.Asp2858His | |
| XM_011515721.1:c.3337G>C | XP_011514023.1:p.Asp1113His | |
| XM_011515722.1:c.3298G>C | XP_011514024.1:p.Asp1100His | |
| XM_017011642.2:c.8812G>C | XP_016867131.1:p.Asp2938His | |
| XM_017011643.2:c.8773G>C | XP_016867132.1:p.Asp2925His | |
| XM_017011644.2:c.8812G>C | XP_016867133.1:p.Asp2938His | |
| XM_017011645.2:c.8758G>C | XP_016867134.1:p.Asp2920His | |
| XM_017011646.2:c.8773G>C | XP_016867135.1:p.Asp2925His | |
| XM_017011647.2:c.8719G>C | XP_016867136.1:p.Asp2907His | |
| XM_017011648.2:c.8716G>C | XP_016867137.1:p.Asp2906His | |
| XM_017011649.2:c.8749G>C | XP_016867138.1:p.Asp2917His | |
| XM_017011650.2:c.8677G>C | XP_016867139.1:p.Asp2893His | |
| XM_017011651.2:c.8671G>C | XP_016867140.1:p.Asp2891His | |
| XM_017011652.2:c.8812G>C | XP_016867141.1:p.Asp2938His | |
| XM_017011653.2:c.8584G>C | XP_016867142.1:p.Asp2862His | |
| XM_017011654.2:c.8536G>C | XP_016867143.1:p.Asp2846His | |
| XM_017011655.2:c.8440G>C | XP_016867144.1:p.Asp2814His | |
| XM_017011656.2:c.8440G>C | XP_016867145.1:p.Asp2814His | |
| XM_017011657.2:c.4477G>C | XP_016867146.1:p.Asp1493His | |
| XM_017011658.2:c.3361G>C | XP_016867147.1:p.Asp1121His | |
| XM_017011659.2:c.3322G>C | XP_016867148.1:p.Asp1108His | |
| XM_017011660.2:c.3322G>C | XP_016867149.1:p.Asp1108His | |
| XM_024446631.1:c.8575G>C | XP_024302399.1:p.Asp2859His | |
| NM_147185.3:c.8653G>C | NP_671714.1:p.Asp2885His | |
| NM_001379277.1:c.3322G>C | NP_001366206.1:p.Asp1108His | |
| NM_005751.5:c.8677G>C MANE Select | NP_005742.4:p.Asp2893His |