Linked Data
dbSNP Id:
rs376050023
ExAC:
3:123003569 C / T
gnomAD v2:
3-123003569-C-T
gnomAD v3:
3-123284722-C-T
gnomAD v4:
3-123284722-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123284722C>T , CM000665.2:g.123284722C>T | GRCh38 |
| NC_000003.11:g.123003569C>T , CM000665.1:g.123003569C>T | GRCh37 |
| NC_000003.10:g.124486259C>T | NCBI36 |
| NG_033882.1:g.168824G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466617.6:c.2349G>A | ENSP00000420082.2:p.Met783Ile | |
| ENST00000470367.2:c.2637G>A | ENSP00000514541.1:p.Met879Ile | |
| ENST00000483566.2:c.2349G>A | ENSP00000420252.2:p.Met783Ile | |
| ENST00000699714.1:c.2349G>A | ENSP00000514539.1:p.Met783Ile | |
| ENST00000699715.1:c.2349G>A | ENSP00000514540.1:p.Met783Ile | |
| ENST00000699716.1:c.2349G>A | ENSP00000514542.1:p.Met783Ile | |
| ENST00000699717.1:n.2075G>A | ||
| ENST00000699718.1:c.3747G>A | ENSP00000514543.1:p.Met1249Ile | |
| ENST00000462833.6:c.3672G>A MANE Select | ENSP00000419361.1:p.Met1224Ile | |
| ENST00000309879.9:c.2622G>A | ENSP00000308685.5:p.Met874Ile | |
| ENST00000462833.5:c.3672G>A | ENSP00000419361.1:p.Met1224Ile | |
| ENST00000478092.1:n.442G>A | ||
| ENST00000491190.5:c.2646G>A | ENSP00000418537.1:p.Met882Ile | |
| NM_001199642.1:c.2622G>A | NP_001186571.1:p.Met874Ile | |
| NM_183357.2:c.3672G>A | NP_899200.1:p.Met1224Ile | |
| XM_005247077.2:c.3747G>A | XP_005247134.1:p.Met1249Ile | |
| XM_005247078.1:c.2697G>A | XP_005247135.1:p.Met899Ile | |
| XM_006713483.1:c.2646G>A | XP_006713546.1:p.Met882Ile | |
| XM_006713484.1:c.2424G>A | XP_006713547.1:p.Met808Ile | |
| XM_011512359.1:c.2748G>A | XP_011510661.1:p.Met916Ile | |
| XM_011512360.1:c.2658G>A | XP_011510662.1:p.Met886Ile | |
| XM_011512361.1:c.2424G>A | XP_011510663.1:p.Met808Ile | |
| XM_005247077.4:c.3747G>A | XP_005247134.1:p.Met1249Ile | |
| XM_011512359.2:c.2748G>A | XP_011510661.1:p.Met916Ile | |
| XM_011512360.3:c.2658G>A | XP_011510662.1:p.Met886Ile | |
| XM_017005638.1:c.2649G>A | XP_016861127.1:p.Met883Ile | |
| XM_017005639.1:c.2649G>A | XP_016861128.1:p.Met883Ile | |
| NM_001378259.1:c.3747G>A | NP_001365188.1:p.Met1249Ile | |
| NM_183357.3:c.3672G>A MANE Select | NP_899200.1:p.Met1224Ile |