Linked Data
dbSNP Id:
rs757551172
gnomAD v2:
21-47557227-T-G
gnomAD v3:
21-46137313-T-G
gnomAD v4:
21-46137313-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46137313T>G , CM000683.2:g.46137313T>G | GRCh38 |
| NC_000021.8:g.47557227T>G , CM000683.1:g.47557227T>G | GRCh37 |
| NC_000021.7:g.46381655T>G | NCBI36 |
| NG_016191.1:g.23255A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460011.6:c.1A>C | ENSP00000507070.1:p.Met1Leu | |
| ENST00000494498.2:c.199A>C | ENSP00000507847.1:p.Met67Leu | |
| ENST00000397746.8:c.1465A>C MANE Select | ENSP00000380854.3:p.Met489Leu | |
| ENST00000291670.9:c.1465A>C | ENSP00000291670.5:p.Met489Leu | |
| ENST00000397743.1:c.1421A>C | ENSP00000380851.1:p.Asp474Ala | |
| ENST00000397746.7:c.1465A>C | ENSP00000380854.3:p.Met489Leu | |
| ENST00000397748.5:c.1465A>C | ENSP00000380856.1:p.Met489Leu | |
| ENST00000446405.5:c.87A>C | ||
| ENST00000460011.5:n.794A>C | ||
| ENST00000483568.5:n.22A>C | ||
| ENST00000494498.1:n.766A>C | ||
| ENST00000498355.6:n.1534A>C | ||
| NM_006657.2:c.1465A>C | NP_006648.1:p.Met489Leu | |
| NM_206965.1:c.1465A>C | NP_996848.1:p.Met489Leu | |
| XM_006723961.2:c.1714A>C | XP_006724024.2:p.Met572Leu | |
| XM_006723962.2:c.1714A>C | XP_006724025.2:p.Met572Leu | |
| XM_011529434.1:c.1714A>C | XP_011527736.1:p.Met572Leu | |
| XM_011529435.1:c.1585A>C | XP_011527737.1:p.Met529Leu | |
| XM_011529436.1:c.1714A>C | XP_011527738.1:p.Met572Leu | |
| XM_011529437.1:c.1714A>C | XP_011527739.1:p.Met572Leu | |
| XM_011529438.1:c.1585A>C | XP_011527740.1:p.Met529Leu | |
| XM_011529439.1:c.1201A>C | XP_011527741.1:p.Met401Leu | |
| XR_937433.1:n.1897A>C | ||
| NM_001320412.1:c.1465A>C | NP_001307341.1:p.Met489Leu | |
| XM_006723961.4:c.1714A>C | XP_006724024.2:p.Met572Leu | |
| XM_006723962.4:c.1714A>C | XP_006724025.2:p.Met572Leu | |
| XM_011529434.3:c.1714A>C | XP_011527736.1:p.Met572Leu | |
| XM_011529435.3:c.1585A>C | XP_011527737.1:p.Met529Leu | |
| XM_011529436.3:c.1714A>C | XP_011527738.1:p.Met572Leu | |
| XM_011529437.3:c.1714A>C | XP_011527739.1:p.Met572Leu | |
| XM_011529439.2:c.1201A>C | XP_011527741.1:p.Met401Leu | |
| XR_937433.3:n.1931A>C | ||
| NM_206965.2:c.1465A>C MANE Select | NP_996848.1:p.Met489Leu | |
| NM_001320412.2:c.1465A>C | NP_001307341.1:p.Met489Leu | |
| NM_006657.3:c.1465A>C | NP_006648.1:p.Met489Leu |