Linked Data
dbSNP Id:
rs756250421
ExAC:
X:66766151 A / C
gnomAD v2:
X-66766151-A-C
gnomAD v4:
X-67546309-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67546309A>C , CM000685.2:g.67546309A>C | GRCh38 |
| NC_000023.10:g.66766151A>C , CM000685.1:g.66766151A>C | GRCh37 |
| NC_000023.9:g.66682876A>C | NCBI36 |
| NG_009014.2:g.7278A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.1163A>C | ENSP00000379358.4:p.Lys388Thr | |
| ENST00000374690.9:c.1163A>C MANE Select | ENSP00000363822.3:p.Lys388Thr | |
| ENST00000396044.8:c.1163A>C | ENSP00000379359.3:p.Lys388Thr | |
| ENST00000612452.5:c.1163A>C | ENSP00000484033.2:p.Lys388Thr | |
| ENST00000374690.7:c.1163A>C | ENSP00000363822.3:p.Lys388Thr | |
| ENST00000396044.7:c.1163A>C | ENSP00000379359.3:p.Lys388Thr | |
| ENST00000504326.5:c.1163A>C | ENSP00000421155.1:p.Lys388Thr | |
| ENST00000513847.5:n.1490A>C | ||
| ENST00000514029.5:c.1163A>C | ENSP00000425199.1:p.Lys388Thr | |
| ENST00000612010.4:c.1163A>C | ENSP00000482407.1:p.Lys388Thr | |
| ENST00000612452.4:c.593A>C | ENSP00000484033.1:p.Lys198Thr | |
| ENST00000613054.2:c.1163A>C | ENSP00000479013.1:p.Lys388Thr | |
| NM_000044.3:c.1163A>C | NP_000035.2:p.Lys388Thr | |
| NM_000044.4:c.1163A>C | NP_000035.2:p.Lys388Thr | |
| NM_001011645.3:c.-621A>C | NP_001011645.1:n.-621A>C | |
| NM_001348061.1:c.1163A>C | NP_001334990.1:p.Lys388Thr | |
| NM_001348063.1:c.1163A>C | NP_001334992.1:p.Lys388Thr | |
| NM_001348064.1:c.1163A>C | NP_001334993.1:p.Lys388Thr | |
| NM_000044.6:c.1163A>C MANE Select | NP_000035.2:p.Lys388Thr |