Linked Data
dbSNP Id:
rs781960959
ExAC:
X:49111938 C / T
gnomAD v2:
X-49111938-C-T
gnomAD v4:
X-49255477-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49255477C>T , CM000685.2:g.49255477C>T | GRCh38 |
| NC_000023.10:g.49111938C>T , CM000685.1:g.49111938C>T | GRCh37 |
| NC_000023.9:g.48998882C>T | NCBI36 |
| NG_007392.1:g.14351G>A , LRG_62:g.14351G>A | |
| NG_021311.2:g.25013C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376199.7:c.663G>A | ENSP00000365372.2:p.Met221Ile | |
| ENST00000376207.10:c.768G>A MANE Select | ENSP00000365380.4:p.Met256Ile | |
| ENST00000455775.7:c.837G>A | ENSP00000396415.3:p.Met279Ile | |
| ENST00000518685.6:c.735+238G>A | ENSP00000428952.2:n.735+238G>A | |
| ENST00000557224.6:c.663G>A | ENSP00000451208.1:p.Met221Ile | |
| ENST00000651307.1:c.768G>A | ENSP00000498454.1:p.Met256Ile | |
| ENST00000376197.1:c.618G>A | ENSP00000365369.1:p.Met206Ile | |
| ENST00000376199.6:c.663G>A | ENSP00000365372.2:p.Met221Ile | |
| ENST00000376207.8:c.768G>A | ENSP00000365380.4:p.Met256Ile | |
| ENST00000455775.6:c.837G>A | ENSP00000396415.3:p.Met279Ile | |
| ENST00000518685.5:c.663G>A | ENSP00000428952.1:p.Met221Ile | |
| ENST00000557224.5:c.663G>A | ENSP00000451208.1:p.Met221Ile | |
| NM_001114377.1:c.663G>A | NP_001107849.1:p.Met221Ile | |
| NM_014009.3:c.768G>A , LRG_62t1:c.768G>A | NP_054728.2:p.Met256Ile | |
| XM_006724533.2:c.837G>A | XP_006724596.2:p.Met279Ile | |
| XM_011543915.1:c.987G>A | XP_011542217.1:p.Met329Ile | |
| XM_011543916.1:c.987G>A | XP_011542218.1:p.Met329Ile | |
| XM_011543917.1:c.786G>A | XP_011542219.1:p.Met262Ile | |
| XM_011543918.1:c.1023G>A | XP_011542220.1:p.Met341Ile | |
| XM_011543919.1:c.987G>A | XP_011542221.1:p.Met329Ile | |
| XM_017029567.1:c.714G>A | XP_016885056.1:p.Met238Ile | |
| NM_001114377.2:c.663G>A | NP_001107849.1:p.Met221Ile | |
| NM_014009.4:c.768G>A MANE Select | NP_054728.2:p.Met256Ile |