Linked Data
ClinVar Variation Id:
502048
dbSNP Id:
rs757386372
ExAC:
2:55549779 A / G
gnomAD v2:
2-55549779-A-G
gnomAD v3:
2-55322643-A-G
gnomAD v4:
2-55322643-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55322643A>G , CM000664.2:g.55322643A>G | GRCh38 |
| NC_000002.11:g.55549779A>G , CM000664.1:g.55549779A>G | GRCh37 |
| NC_000002.10:g.55403283A>G | NCBI36 |
| NG_031944.1:g.102279T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263630.13:c.3047T>C | ENSP00000263630.8:p.Met1016Thr | |
| ENST00000412148.6:c.182T>C | ENSP00000390012.1:p.Met61Thr | |
| ENST00000413716.7:c.3047T>C | ENSP00000404431.3:p.Met1016Thr | |
| ENST00000426576.6:c.572T>C | ENSP00000405080.1:p.Met191Thr | |
| ENST00000436346.7:c.3047T>C MANE Select | ENSP00000410608.1:p.Met1016Thr | |
| ENST00000642200.1:c.3047T>C | ENSP00000495919.1:p.Met1016Thr | |
| ENST00000642563.1:c.902T>C | ENSP00000493994.1:p.Met301Thr | |
| ENST00000643265.1:c.2628T>C | ||
| ENST00000643375.1:c.528T>C | ||
| ENST00000643413.1:c.3044T>C | ENSP00000494811.1:p.Met1015Thr | |
| ENST00000643634.1:n.1925T>C | ||
| ENST00000643873.1:n.244T>C | ||
| ENST00000644512.1:c.554T>C | ENSP00000495933.1:p.Met185Thr | |
| ENST00000645072.1:c.3044T>C | ENSP00000494030.1:p.Met1015Thr | |
| ENST00000645311.1:c.3047T>C | ENSP00000494054.1:p.Met1016Thr | |
| ENST00000645477.1:c.3047T>C | ENSP00000495712.1:p.Met1016Thr | |
| ENST00000645485.1:n.1692T>C | ||
| ENST00000645571.1:n.3670T>C | ||
| ENST00000645860.1:c.771T>C | ||
| ENST00000646285.1:c.1570T>C | ||
| ENST00000646796.1:c.3044T>C | ENSP00000493703.1:p.Met1015Thr | |
| ENST00000647396.1:c.918T>C | ||
| ENST00000647401.1:c.2411T>C | ENSP00000496148.1:p.Met804Thr | |
| ENST00000263630.12:c.3047T>C | ENSP00000263630.8:p.Met1016Thr | |
| ENST00000336838.10:c.3044T>C | ENSP00000338728.6:p.Met1015Thr | |
| ENST00000412148.5:c.182T>C | ENSP00000390012.1:p.Met61Thr | |
| ENST00000413716.6:c.3044T>C | ENSP00000404431.2:p.Met1015Thr | |
| ENST00000426576.5:c.572T>C | ENSP00000405080.1:p.Met191Thr | |
| ENST00000436346.5:c.3047T>C | ENSP00000410608.1:p.Met1016Thr | |
| ENST00000456975.1:c.104-3639T>C | ||
| NM_001135597.1:c.3044T>C | NP_001129069.1:p.Met1015Thr | |
| NM_001254943.1:c.3044T>C | NP_001241872.1:p.Met1015Thr | |
| NM_018084.4:c.3047T>C | NP_060554.3:p.Met1016Thr | |
| XM_005264418.3:c.3047T>C | XP_005264475.1:p.Met1016Thr | |
| XM_005264421.1:c.3047T>C | XP_005264478.1:p.Met1016Thr | |
| XM_005264426.1:c.3047T>C | XP_005264483.1:p.Met1016Thr | |
| XM_011532964.1:c.2753T>C | XP_011531266.1:p.Met918Thr | |
| XM_011532965.1:c.3047T>C | XP_011531267.1:p.Met1016Thr | |
| XM_011532966.1:c.3047T>C | XP_011531268.1:p.Met1016Thr | |
| XM_011532967.1:c.3047T>C | XP_011531269.1:p.Met1016Thr | |
| XM_011532968.1:c.3047T>C | XP_011531270.1:p.Met1016Thr | |
| XM_011532969.1:c.3047T>C | XP_011531271.1:p.Met1016Thr | |
| NM_001365480.1:c.3047T>C MANE Select | NP_001352409.1:p.Met1016Thr | |
| XM_005264418.5:c.3047T>C | XP_005264475.1:p.Met1016Thr | |
| XM_005264421.3:c.3047T>C | XP_005264478.1:p.Met1016Thr | |
| XM_005264426.3:c.3047T>C | XP_005264483.1:p.Met1016Thr | |
| XM_011532966.3:c.3047T>C | XP_011531268.1:p.Met1016Thr | |
| XM_011532967.3:c.3047T>C | XP_011531269.1:p.Met1016Thr | |
| XM_011532968.3:c.3047T>C | XP_011531270.1:p.Met1016Thr | |
| XM_017004476.2:c.3044T>C | XP_016859965.1:p.Met1015Thr | |
| XM_017004477.2:c.3047T>C | XP_016859966.1:p.Met1016Thr | |
| XM_017004478.2:c.3047T>C | XP_016859967.1:p.Met1016Thr | |
| XM_017004479.2:c.3047T>C | XP_016859968.1:p.Met1016Thr | |
| XM_017004480.2:c.2822T>C | XP_016859969.1:p.Met941Thr | |
| XM_017004481.2:c.3047T>C | XP_016859970.1:p.Met1016Thr | |
| NM_001135597.2:c.3044T>C | NP_001129069.1:p.Met1015Thr | |
| NM_001254943.2:c.3044T>C | NP_001241872.1:p.Met1015Thr | |
| NM_018084.5:c.3047T>C | NP_060554.3:p.Met1016Thr |