Linked Data
ClinVar Variation Id:
134591
ClinVar RCV Id:
RCV000121281
dbSNP Id:
rs797044474
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53216117C>G , CM000685.2:g.53216117C>G | GRCh38 |
| NC_000023.10:g.53245299C>G , CM000685.1:g.53245299C>G | GRCh37 |
| NC_000023.9:g.53262024C>G | NCBI36 |
| NG_008085.1:g.14306G>C | |
| NG_008085.2:g.14306G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465402.2:n.1069G>C | ||
| ENST00000685423.1:c.738G>C | ENSP00000508806.1:p.Met246Ile | |
| ENST00000685539.1:n.1082G>C | ||
| ENST00000685641.1:c.738G>C | ENSP00000509818.1:p.Met246Ile | |
| ENST00000687695.1:c.735G>C | ENSP00000508631.1:p.Met245Ile | |
| ENST00000687928.1:n.1008G>C | ||
| ENST00000688699.1:c.738G>C | ENSP00000510430.1:p.Met246Ile | |
| ENST00000691505.1:c.738G>C | ENSP00000510354.1:p.Met246Ile | |
| ENST00000693277.1:c.243G>C | ENSP00000510522.1:p.Met81Ile | |
| ENST00000375401.8:c.738G>C MANE Select | ENSP00000364550.4:p.Met246Ile | |
| ENST00000375379.7:c.738G>C | ENSP00000364528.3:p.Met246Ile | |
| ENST00000375383.7:c.615G>C | ENSP00000364532.3:p.Met205Ile | |
| ENST00000375401.7:c.738G>C | ENSP00000364550.3:p.Met246Ile | |
| ENST00000404049.7:c.735G>C | ENSP00000385394.3:p.Met245Ile | |
| ENST00000452825.7:c.537G>C | ENSP00000445176.1:p.Met179Ile | |
| ENST00000497995.1:n.88G>C | ||
| NM_001146702.1:c.537G>C | NP_001140174.1:p.Met179Ile | |
| NM_001282622.1:c.735G>C | NP_001269551.1:p.Met245Ile | |
| NM_004187.3:c.738G>C | NP_004178.2:p.Met246Ile | |
| XM_005262035.3:c.738G>C | XP_005262092.1:p.Met246Ile | |
| XM_006724609.2:c.738G>C | XP_006724672.1:p.Met246Ile | |
| XM_011530824.1:c.738G>C | XP_011529126.1:p.Met246Ile | |
| XM_011530825.1:c.615G>C | XP_011529127.1:p.Met205Ile | |
| XM_011530826.1:c.615G>C | XP_011529128.1:p.Met205Ile | |
| XM_011530827.1:c.738G>C | XP_011529129.1:p.Met246Ile | |
| XM_011530828.1:c.738G>C | XP_011529130.1:p.Met246Ile | |
| XM_011530829.1:c.243G>C | XP_011529131.1:p.Met81Ile | |
| XM_011530830.1:c.243G>C | XP_011529132.1:p.Met81Ile | |
| XR_938369.1:n.1084G>C | ||
| XR_938370.1:n.1084G>C | ||
| XR_938371.1:n.1084G>C | ||
| XR_938372.1:n.1084G>C | ||
| XR_938373.1:n.1084G>C | ||
| NM_001353978.1:c.738G>C | NP_001340907.1:p.Met246Ile | |
| NM_001353979.1:c.735G>C | NP_001340908.1:p.Met245Ile | |
| NM_001353981.1:c.738G>C | NP_001340910.1:p.Met246Ile | |
| NM_001353982.1:c.735G>C | NP_001340911.1:p.Met245Ile | |
| NM_001353984.1:c.738G>C | NP_001340913.1:p.Met246Ile | |
| NR_148672.1:n.1271G>C | ||
| NR_148673.1:n.1268G>C | ||
| NR_148674.1:n.1148G>C | ||
| XM_011530824.3:c.738G>C | XP_011529126.1:p.Met246Ile | |
| XM_011530825.3:c.615G>C | XP_011529127.1:p.Met205Ile | |
| XM_011530826.3:c.615G>C | XP_011529128.1:p.Met205Ile | |
| XM_011530827.3:c.738G>C | XP_011529129.1:p.Met246Ile | |
| XM_011530828.2:c.738G>C | XP_011529130.1:p.Met246Ile | |
| XM_011530829.2:c.243G>C | XP_011529131.1:p.Met81Ile | |
| XM_011530830.2:c.243G>C | XP_011529132.1:p.Met81Ile | |
| XM_024452466.1:c.735G>C | XP_024308234.1:p.Met245Ile | |
| XR_001755735.2:n.1064G>C | ||
| XR_001755736.2:n.1064G>C | ||
| XR_001755737.2:n.1064G>C | ||
| XR_938370.3:n.1064G>C | ||
| NM_001146702.2:c.537G>C | NP_001140174.1:p.Met179Ile | |
| NM_001282622.3:c.735G>C | NP_001269551.1:p.Met245Ile | |
| NM_001353978.3:c.738G>C | NP_001340907.1:p.Met246Ile | |
| NM_001353979.2:c.735G>C | NP_001340908.1:p.Met245Ile | |
| NM_001353981.2:c.738G>C | NP_001340910.1:p.Met246Ile | |
| NM_001353982.2:c.735G>C | NP_001340911.1:p.Met245Ile | |
| NM_004187.5:c.738G>C MANE Select | NP_004178.2:p.Met246Ile | |
| NR_148672.2:n.1056G>C | ||
| NR_148673.2:n.1053G>C | ||
| NR_148674.2:n.933G>C | ||
| NM_001353984.2:c.738G>C | NP_001340913.1:p.Met246Ile |