Linked Data
ClinVar Variation Id:
261553
dbSNP Id:
rs370762205
ExAC:
10:73550106 C / T
gnomAD v2:
10-73550106-C-T
gnomAD v3:
10-71790349-C-T
gnomAD v4:
10-71790349-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71790349C>T , CM000672.2:g.71790349C>T | GRCh38 |
| NC_000010.10:g.73550106C>T , CM000672.1:g.73550106C>T | GRCh37 |
| NC_000010.9:g.73220112C>T | NCBI36 |
| NG_008835.1:g.398403C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.5985C>T MANE Select | ENSP00000224721.9:p.Tyr1995= | |
| ENST00000224721.10:c.6000C>T | ENSP00000224721.8:p.Tyr2000= | |
| ENST00000622827.4:c.5985C>T | ENSP00000483211.1:p.Tyr1995= | |
| NM_022124.5:c.5985C>T | NP_071407.4:p.Tyr1995= | |
| XM_006717940.2:c.6180C>T | XP_006718003.1:p.Tyr2060= | |
| XM_006717942.2:c.6114C>T | XP_006718005.1:p.Tyr2038= | |
| XM_011540039.1:c.6177C>T | XP_011538341.1:p.Tyr2059= | |
| XM_011540040.1:c.6174C>T | XP_011538342.1:p.Tyr2058= | |
| XM_011540041.1:c.6120C>T | XP_011538343.1:p.Tyr2040= | |
| XM_011540042.1:c.6180C>T | XP_011538344.1:p.Tyr2060= | |
| XM_011540043.1:c.6180C>T | XP_011538345.1:p.Tyr2060= | |
| XM_011540044.1:c.6045C>T | XP_011538346.1:p.Tyr2015= | |
| XM_011540045.1:c.6180C>T | XP_011538347.1:p.Tyr2060= | |
| XM_011540046.1:c.5640C>T | XP_011538348.1:p.Tyr1880= | |
| XM_011540047.1:c.4998C>T | XP_011538349.1:p.Tyr1666= | |
| XM_011540048.1:c.6180C>T | XP_011538350.1:p.Tyr2060= | |
| XM_011540049.1:c.6180C>T | XP_011538351.1:p.Tyr2060= | |
| XM_011540050.1:c.6180C>T | XP_011538352.1:p.Tyr2060= | |
| XM_011540051.1:c.6180C>T | XP_011538353.1:p.Tyr2060= | |
| XM_011540052.1:c.2508C>T | XP_011538354.1:p.Tyr836= | |
| XR_945796.1:n.6423C>T | ||
| NM_022124.6:c.5985C>T MANE Select | NP_071407.4:p.Tyr1995= |