Linked Data
ClinVar Variation Id:
130730
ClinVar RCV Id:
RCV000118846
RCV000322092
RCV000559445
RCV002227063
RCV003488393
RCV003952580
RCV002444574
dbSNP Id:
rs139476915
ExAC:
14:97322892 G / T
gnomAD v2:
14-97322892-G-T
gnomAD v3:
14-96856555-G-T
gnomAD v4:
14-96856555-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96856555G>T , CM000676.2:g.96856555G>T | GRCh38 |
| NC_000014.8:g.97322892G>T , CM000676.1:g.97322892G>T | GRCh37 |
| NC_000014.7:g.96392645G>T | NCBI36 |
| NG_016293.1:g.64209G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216639.8:c.858G>T MANE Select | ENSP00000216639.3:p.Met286Ile | |
| ENST00000553683.2:c.858G>T | ENSP00000451412.2:p.Met286Ile | |
| ENST00000557222.6:c.474G>T | ENSP00000450820.2:p.Met158Ile | |
| ENST00000557352.2:c.858G>T | ENSP00000451682.2:p.Met286Ile | |
| ENST00000679365.1:c.852G>T | ENSP00000505882.1:p.Met284Ile | |
| ENST00000679462.1:c.858G>T | ENSP00000506011.1:p.Met286Ile | |
| ENST00000679506.1:n.2920G>T | ||
| ENST00000679533.1:c.*631G>T | ENSP00000505873.1:n.*631G>T | |
| ENST00000679650.1:c.*547G>T | ENSP00000505156.1:n.*547G>T | |
| ENST00000679727.1:c.852G>T | ENSP00000505844.1:p.Met284Ile | |
| ENST00000679736.1:c.*2G>T | ENSP00000506517.1:n.*2G>T | |
| ENST00000679758.1:c.858G>T | ENSP00000505539.1:p.Met286Ile | |
| ENST00000679770.1:c.858G>T | ENSP00000505214.1:p.Met286Ile | |
| ENST00000679816.1:c.858G>T | ENSP00000506525.1:p.Met286Ile | |
| ENST00000679843.1:c.161G>T | ENSP00000506467.1:n.161G>T | |
| ENST00000679903.1:c.858G>T | ENSP00000506022.1:p.Met286Ile | |
| ENST00000679918.1:c.858G>T | ENSP00000505439.1:p.Met286Ile | |
| ENST00000679941.1:c.858G>T | ENSP00000506520.1:p.Met286Ile | |
| ENST00000679977.1:c.*104G>T | ENSP00000504897.1:n.*104G>T | |
| ENST00000680007.1:c.858G>T | ENSP00000505683.1:p.Met286Ile | |
| ENST00000680084.1:n.964G>T | ||
| ENST00000680222.1:c.*542G>T | ENSP00000506647.1:n.*542G>T | |
| ENST00000680335.1:c.858G>T | ENSP00000505806.1:p.Met286Ile | |
| ENST00000680339.1:c.*426G>T | ENSP00000506470.1:n.*426G>T | |
| ENST00000680348.1:c.*343G>T | ENSP00000504922.1:n.*343G>T | |
| ENST00000680384.1:c.*748G>T | ENSP00000506237.1:n.*748G>T | |
| ENST00000680387.1:c.858G>T | ENSP00000504908.1:p.Met286Ile | |
| ENST00000680509.1:c.858G>T | ENSP00000505209.1:p.Met286Ile | |
| ENST00000680526.1:c.*448G>T | ENSP00000505595.1:n.*448G>T | |
| ENST00000680538.1:c.858G>T | ENSP00000505611.1:p.Met286Ile | |
| ENST00000680683.1:c.858G>T | ENSP00000506334.1:p.Met286Ile | |
| ENST00000680724.1:c.858G>T | ENSP00000504891.1:p.Met286Ile | |
| ENST00000680756.1:c.858G>T | ENSP00000506648.1:p.Met286Ile | |
| ENST00000680849.1:c.855G>T | ENSP00000505602.1:p.Met285Ile | |
| ENST00000680851.1:c.858G>T | ENSP00000505159.1:p.Met286Ile | |
| ENST00000680922.1:c.*2G>T | ENSP00000506480.1:n.*2G>T | |
| ENST00000680993.1:c.*222G>T | ENSP00000505511.1:n.*222G>T | |
| ENST00000681061.1:c.482G>T | ||
| ENST00000681077.1:c.*492G>T | ENSP00000505642.1:n.*492G>T | |
| ENST00000681101.1:c.858G>T | ENSP00000506564.1:p.Met286Ile | |
| ENST00000681176.1:c.732G>T | ENSP00000505454.1:p.Met244Ile | |
| ENST00000681195.1:c.858G>T | ENSP00000504933.1:p.Met286Ile | |
| ENST00000681249.1:c.858G>T | ENSP00000506013.1:p.Met286Ile | |
| ENST00000681344.1:c.858G>T | ENSP00000506151.1:p.Met286Ile | |
| ENST00000681355.1:c.858G>T | ENSP00000506214.1:p.Met286Ile | |
| ENST00000681363.1:c.858G>T | ENSP00000505564.1:p.Met286Ile | |
| ENST00000681419.1:c.858G>T | ENSP00000505512.1:p.Met286Ile | |
| ENST00000681474.1:c.858G>T | ENSP00000505569.1:p.Met286Ile | |
| ENST00000681493.1:c.852G>T | ENSP00000506429.1:p.Met284Ile | |
| ENST00000681524.1:c.*2G>T | ENSP00000505783.1:n.*2G>T | |
| ENST00000681538.1:c.858G>T | ENSP00000506662.1:p.Met286Ile | |
| ENST00000681598.1:c.*327G>T | ENSP00000506128.1:n.*327G>T | |
| ENST00000681677.1:c.482G>T | ||
| ENST00000681695.1:c.*448G>T | ENSP00000506225.1:n.*448G>T | |
| ENST00000681778.1:c.858G>T | ENSP00000506049.1:p.Met286Ile | |
| ENST00000681785.1:c.858G>T | ENSP00000505166.1:p.Met286Ile | |
| ENST00000216639.7:c.858G>T | ENSP00000216639.3:p.Met286Ile | |
| ENST00000557222.5:c.427G>T | ||
| ENST00000557352.1:c.202G>T | ||
| NM_003384.2:c.858G>T | NP_003375.1:p.Met286Ile | |
| XM_006720247.2:c.858G>T | XP_006720310.1:p.Met286Ile | |
| XM_011537132.1:c.858G>T | XP_011535434.1:p.Met286Ile | |
| XM_006720247.4:c.858G>T | XP_006720310.1:p.Met286Ile | |
| XM_017021624.2:c.858G>T | XP_016877113.1:p.Met286Ile | |
| XM_017021625.1:c.864G>T | XP_016877114.1:p.Met288Ile | |
| XM_017021626.2:c.*2G>T | XP_016877115.1:n.*2G>T | |
| XR_001750539.2:n.805G>T | ||
| NM_003384.3:c.858G>T MANE Select | NP_003375.1:p.Met286Ile |