Linked Data
ClinVar Variation Id:
180265
dbSNP Id:
rs543634397
ExAC:
7:91712668 C / T
gnomAD v2:
7-91712668-C-T
gnomAD v3:
7-92083354-C-T
gnomAD v4:
7-92083354-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92083354C>T , CM000669.2:g.92083354C>T | GRCh38 |
| NC_000007.13:g.91712668C>T , CM000669.1:g.91712668C>T | GRCh37 |
| NC_000007.12:g.91550604C>T | NCBI36 |
| NG_011623.1:g.147480C>T , LRG_331:g.147480C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.8345C>T MANE Select | ENSP00000348573.3:p.Thr2782Ile | |
| ENST00000359028.7:c.8417C>T | ENSP00000351922.4:p.Thr2806Ile | |
| ENST00000394534.7:c.1838C>T | ENSP00000378042.3:p.Thr613Ile | |
| ENST00000435423.2:n.185C>T | ||
| ENST00000491695.2:c.2990C>T | ENSP00000494626.2:p.Thr997Ile | |
| ENST00000679448.1:c.8321C>T | ENSP00000505889.1:p.Thr2774Ile | |
| ENST00000679457.1:c.8321C>T | ENSP00000505450.1:p.Thr2774Ile | |
| ENST00000679474.1:n.8543C>T | ||
| ENST00000679521.1:c.8291C>T | ENSP00000505456.1:p.Thr2764Ile | |
| ENST00000679722.1:n.8567C>T | ||
| ENST00000679821.1:c.8087C>T | ENSP00000506040.1:p.Thr2696Ile | |
| ENST00000680047.1:n.8543C>T | ||
| ENST00000680072.1:c.8168C>T | ENSP00000506581.1:p.Thr2723Ile | |
| ENST00000680181.1:c.8252C>T | ENSP00000505548.1:p.Thr2751Ile | |
| ENST00000680365.1:c.1838C>T | ENSP00000506019.1:p.Thr613Ile | |
| ENST00000680513.1:c.8204C>T | ENSP00000505284.1:p.Thr2735Ile | |
| ENST00000680534.1:c.8384C>T | ENSP00000506674.1:p.Thr2795Ile | |
| ENST00000680766.1:c.8321C>T | ENSP00000505204.1:p.Thr2774Ile | |
| ENST00000680952.1:c.8321C>T | ENSP00000506407.1:p.Thr2774Ile | |
| ENST00000681216.1:c.1764+74C>T | ENSP00000505551.1:n.1764+74C>T | |
| ENST00000681412.1:c.8345C>T | ENSP00000506486.1:p.Thr2782Ile | |
| ENST00000681722.1:c.8321C>T | ENSP00000506566.1:p.Thr2774Ile | |
| ENST00000356239.7:c.8345C>T | ENSP00000348573.3:p.Thr2782Ile | |
| ENST00000358100.6:c.8204C>T | ENSP00000350813.3:p.Thr2735Ile | |
| ENST00000359028.6:c.8378C>T | ENSP00000351922.3:p.Thr2793Ile | |
| ENST00000394534.6:c.1883C>T | ENSP00000378042.2:p.Thr628Ile | |
| NM_005751.4:c.8345C>T , LRG_331t1:c.8345C>T | NP_005742.4:p.Thr2782Ile | |
| NM_147185.2:c.8321C>T | NP_671714.1:p.Thr2774Ile | |
| XM_006715827.1:c.8204C>T | XP_006715890.1:p.Thr2735Ile | |
| XM_011515709.1:c.8492C>T | XP_011514011.1:p.Thr2831Ile | |
| XM_011515710.1:c.8516C>T | XP_011514012.1:p.Thr2839Ile | |
| XM_011515711.1:c.8456C>T | XP_011514013.1:p.Thr2819Ile | |
| XM_011515712.1:c.8453C>T | XP_011514014.1:p.Thr2818Ile | |
| XM_011515713.1:c.8438C>T | XP_011514015.1:p.Thr2813Ile | |
| XM_011515714.1:c.8477C>T | XP_011514016.1:p.Thr2826Ile | |
| XM_011515716.1:c.8396C>T | XP_011514018.1:p.Thr2799Ile | |
| XM_011515717.1:c.8351C>T | XP_011514019.1:p.Thr2784Ile | |
| XM_011515718.1:c.8381C>T | XP_011514020.1:p.Thr2794Ile | |
| XM_011515719.1:c.8357C>T | XP_011514021.1:p.Thr2786Ile | |
| XM_011515720.1:c.8240C>T | XP_011514022.1:p.Thr2747Ile | |
| XM_011515721.1:c.3005C>T | XP_011514023.1:p.Thr1002Ile | |
| XM_011515722.1:c.2966C>T | XP_011514024.1:p.Thr989Ile | |
| XM_017011642.2:c.8480C>T | XP_016867131.1:p.Thr2827Ile | |
| XM_017011643.2:c.8441C>T | XP_016867132.1:p.Thr2814Ile | |
| XM_017011644.2:c.8480C>T | XP_016867133.1:p.Thr2827Ile | |
| XM_017011645.2:c.8426C>T | XP_016867134.1:p.Thr2809Ile | |
| XM_017011646.2:c.8441C>T | XP_016867135.1:p.Thr2814Ile | |
| XM_017011647.2:c.8387C>T | XP_016867136.1:p.Thr2796Ile | |
| XM_017011648.2:c.8384C>T | XP_016867137.1:p.Thr2795Ile | |
| XM_017011649.2:c.8417C>T | XP_016867138.1:p.Thr2806Ile | |
| XM_017011650.2:c.8345C>T | XP_016867139.1:p.Thr2782Ile | |
| XM_017011651.2:c.8339C>T | XP_016867140.1:p.Thr2780Ile | |
| XM_017011652.2:c.8480C>T | XP_016867141.1:p.Thr2827Ile | |
| XM_017011653.2:c.8252C>T | XP_016867142.1:p.Thr2751Ile | |
| XM_017011654.2:c.8204C>T | XP_016867143.1:p.Thr2735Ile | |
| XM_017011655.2:c.8108C>T | XP_016867144.1:p.Thr2703Ile | |
| XM_017011656.2:c.8108C>T | XP_016867145.1:p.Thr2703Ile | |
| XM_017011657.2:c.4145C>T | XP_016867146.1:p.Thr1382Ile | |
| XM_017011658.2:c.3029C>T | XP_016867147.1:p.Thr1010Ile | |
| XM_017011659.2:c.2990C>T | XP_016867148.1:p.Thr997Ile | |
| XM_017011660.2:c.2990C>T | XP_016867149.1:p.Thr997Ile | |
| XM_024446631.1:c.8243C>T | XP_024302399.1:p.Thr2748Ile | |
| NM_147185.3:c.8321C>T | NP_671714.1:p.Thr2774Ile | |
| NM_001379277.1:c.2990C>T | NP_001366206.1:p.Thr997Ile | |
| NM_005751.5:c.8345C>T MANE Select | NP_005742.4:p.Thr2782Ile |