Linked Data
ClinVar Variation Id:
2210129
ClinVar RCV Id:
RCV004081536
dbSNP Id:
rs994977268
gnomAD v2:
3-17226639-A-T
gnomAD v4:
3-17185147-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.17185147A>T , CM000665.2:g.17185147A>T | GRCh38 |
| NC_000003.11:g.17226639A>T , CM000665.1:g.17226639A>T | GRCh37 |
| NC_000003.10:g.17201643A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696125.1:c.1880T>A MANE Select | ENSP00000512418.1:p.Met627Lys | |
| ENST00000253692.11:c.1814T>A | ENSP00000253692.6:p.Met605Lys | |
| ENST00000414318.2:n.923T>A | ||
| ENST00000429383.8:c.1814T>A | ENSP00000398127.4:p.Met605Lys | |
| ENST00000429924.6:c.1736T>A | ENSP00000411925.2:p.Met579Lys | |
| ENST00000446818.6:c.1880T>A | ENSP00000402935.2:p.Met627Lys | |
| NM_001134381.1:c.1880T>A | NP_001127853.1:p.Met627Lys | |
| NM_014744.2:c.1814T>A | NP_055559.1:p.Met605Lys | |
| XM_005265611.1:c.1880T>A | XP_005265668.1:p.Met627Lys | |
| XM_005265612.1:c.1880T>A | XP_005265669.1:p.Met627Lys | |
| XM_005265613.2:c.1880T>A | XP_005265670.1:p.Met627Lys | |
| XM_005265614.1:c.1814T>A | XP_005265671.1:p.Met605Lys | |
| XM_005265615.1:c.1472T>A | XP_005265672.1:p.Met491Lys | |
| XM_005265616.3:c.1472T>A | XP_005265673.1:p.Met491Lys | |
| XM_006713430.1:c.1880T>A | XP_006713493.1:p.Met627Lys | |
| XM_011534281.1:c.1880T>A | XP_011532583.1:p.Met627Lys | |
| XM_011534282.1:c.1880T>A | XP_011532584.1:p.Met627Lys | |
| XM_011534283.1:c.1880T>A | XP_011532585.1:p.Met627Lys | |
| XM_011534284.1:c.1880T>A | XP_011532586.1:p.Met627Lys | |
| XM_011534285.1:c.1880T>A | XP_011532587.1:p.Met627Lys | |
| XM_011534286.1:c.1880T>A | XP_011532588.1:p.Met627Lys | |
| XM_011534287.1:c.1472T>A | XP_011532589.1:p.Met491Lys | |
| NM_001349073.1:c.1880T>A | NP_001336002.1:p.Met627Lys | |
| NM_001349074.1:c.1880T>A | NP_001336003.1:p.Met627Lys | |
| NM_001349075.1:c.1880T>A | NP_001336004.1:p.Met627Lys | |
| NM_001349076.1:c.1814T>A | NP_001336005.1:p.Met605Lys | |
| NM_001349077.1:c.1814T>A | NP_001336006.1:p.Met605Lys | |
| NM_001349078.1:c.1814T>A | NP_001336007.1:p.Met605Lys | |
| NM_001349079.1:c.1814T>A | NP_001336008.1:p.Met605Lys | |
| NM_001349080.1:c.1814T>A | NP_001336009.1:p.Met605Lys | |
| NM_001349081.1:c.1835T>A | NP_001336010.1:p.Met612Lys | |
| NM_001349082.1:c.1472T>A | NP_001336011.1:p.Met491Lys | |
| NM_001349083.1:c.1472T>A | NP_001336012.1:p.Met491Lys | |
| NM_001349084.1:c.1472T>A | NP_001336013.1:p.Met491Lys | |
| NM_001349085.1:c.1472T>A | NP_001336014.1:p.Met491Lys | |
| NM_001349086.1:c.1472T>A | NP_001336015.1:p.Met491Lys | |
| NM_001349087.1:c.1406T>A | NP_001336016.1:p.Met469Lys | |
| NM_001349088.1:c.1406T>A | NP_001336017.1:p.Met469Lys | |
| NM_001349089.1:c.1406T>A | NP_001336018.1:p.Met469Lys | |
| NM_001349090.1:c.1406T>A | NP_001336019.1:p.Met469Lys | |
| NM_001349091.1:c.1406T>A | NP_001336020.1:p.Met469Lys | |
| XM_011534283.3:c.1880T>A | XP_011532585.1:p.Met627Lys | |
| XM_011534284.2:c.1880T>A | XP_011532586.1:p.Met627Lys | |
| XM_017007552.2:c.1880T>A | XP_016863041.1:p.Met627Lys | |
| XM_017007553.2:c.1880T>A | XP_016863042.1:p.Met627Lys | |
| XM_017007554.1:c.1880T>A | XP_016863043.1:p.Met627Lys | |
| XM_017007555.2:c.1880T>A | XP_016863044.1:p.Met627Lys | |
| XM_017007556.1:c.1880T>A | XP_016863045.1:p.Met627Lys | |
| XM_017007557.1:c.1814T>A | XP_016863046.1:p.Met605Lys | |
| XM_024453839.1:c.1880T>A | XP_024309607.1:p.Met627Lys | |
| XM_024453840.1:c.1406T>A | XP_024309608.1:p.Met469Lys | |
| NM_001349078.2:c.1814T>A | NP_001336007.1:p.Met605Lys | |
| NM_001134381.2:c.1880T>A | NP_001127853.1:p.Met627Lys | |
| NM_001349073.2:c.1880T>A | NP_001336002.1:p.Met627Lys | |
| NM_001349074.2:c.1880T>A MANE Select | NP_001336003.1:p.Met627Lys | |
| NM_001349075.2:c.1880T>A | NP_001336004.1:p.Met627Lys | |
| NM_001349076.2:c.1814T>A | NP_001336005.1:p.Met605Lys | |
| NM_001349077.2:c.1814T>A | NP_001336006.1:p.Met605Lys | |
| NM_001349079.2:c.1814T>A | NP_001336008.1:p.Met605Lys | |
| NM_001349080.2:c.1814T>A | NP_001336009.1:p.Met605Lys | |
| NM_001349081.2:c.1835T>A | NP_001336010.1:p.Met612Lys | |
| NM_001349082.2:c.1472T>A | NP_001336011.1:p.Met491Lys | |
| NM_001349083.2:c.1472T>A | NP_001336012.1:p.Met491Lys | |
| NM_001349084.2:c.1472T>A | NP_001336013.1:p.Met491Lys | |
| NM_001349085.2:c.1472T>A | NP_001336014.1:p.Met491Lys | |
| NM_001349086.2:c.1472T>A | NP_001336015.1:p.Met491Lys | |
| NM_001349087.2:c.1406T>A | NP_001336016.1:p.Met469Lys | |
| NM_001349088.2:c.1406T>A | NP_001336017.1:p.Met469Lys | |
| NM_001349089.2:c.1406T>A | NP_001336018.1:p.Met469Lys | |
| NM_001349090.2:c.1406T>A | NP_001336019.1:p.Met469Lys | |
| NM_001349091.2:c.1406T>A | NP_001336020.1:p.Met469Lys |