Linked Data
dbSNP Id:
rs748932648
ExAC:
19:36593024 T / C
gnomAD v2:
19-36593024-T-C
gnomAD v4:
19-36102122-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36102122T>C , CM000681.2:g.36102122T>C | GRCh38 |
| NC_000019.9:g.36593024T>C , CM000681.1:g.36593024T>C | GRCh37 |
| NC_000019.8:g.41284864T>C | NCBI36 |
| NG_028101.1:g.52242T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.3191T>C | ENSP00000270301.6:p.Phe1064Ser | |
| ENST00000401500.7:c.3191T>C MANE Select | ENSP00000384792.1:p.Phe1064Ser | |
| ENST00000587391.6:c.*2466T>C | ENSP00000465525.1:n.*2466T>C | |
| ENST00000679357.1:c.981T>C | ||
| ENST00000679422.1:c.870T>C | ||
| ENST00000679682.1:c.3176T>C | ENSP00000506226.1:p.Phe1059Ser | |
| ENST00000679714.1:c.3185T>C | ENSP00000506627.1:p.Phe1062Ser | |
| ENST00000679757.1:c.2840T>C | ENSP00000505158.1:p.Phe947Ser | |
| ENST00000679858.1:c.*2573T>C | ENSP00000505655.1:n.*2573T>C | |
| ENST00000680211.1:c.-209T>C | ENSP00000506102.1:n.-209T>C | |
| ENST00000680349.1:n.1174T>C | ||
| ENST00000680403.1:c.3191T>C | ENSP00000505677.1:p.Phe1064Ser | |
| ENST00000680564.1:c.2972-615T>C | ENSP00000505582.1:n.2972-615T>C | |
| ENST00000680590.1:c.*1586T>C | ENSP00000505350.1:n.*1586T>C | |
| ENST00000680739.1:c.109T>C | ||
| ENST00000680773.1:n.1107T>C | ||
| ENST00000680806.1:c.*1909T>C | ENSP00000506418.1:n.*1909T>C | |
| ENST00000680997.1:n.538T>C | ||
| ENST00000681088.1:c.853T>C | ||
| ENST00000681608.1:n.139T>C | ||
| ENST00000681625.1:c.*523T>C | ENSP00000505555.1:n.*523T>C | |
| ENST00000270301.11:c.3191T>C | ENSP00000270301.6:p.Phe1064Ser | |
| ENST00000401500.6:c.3191T>C | ENSP00000384792.1:p.Phe1064Ser | |
| ENST00000587391.5:c.*2466T>C | ENSP00000465525.1:n.*2466T>C | |
| NM_001083961.1:c.3191T>C | NP_001077430.1:p.Phe1064Ser | |
| NM_173636.4:c.3191T>C | NP_775907.4:p.Phe1064Ser | |
| XM_005258809.2:c.3080T>C | XP_005258866.1:p.Phe1027Ser | |
| XM_011526837.1:c.3176T>C | XP_011525139.1:p.Phe1059Ser | |
| XM_011526838.1:c.2972-615T>C | XP_011525140.1:n.2972-615T>C | |
| XM_011526839.1:c.2840T>C | XP_011525141.1:p.Phe947Ser | |
| XM_011526840.1:c.2183T>C | XP_011525142.1:p.Phe728Ser | |
| XM_011526841.1:c.1769T>C | XP_011525143.1:p.Phe590Ser | |
| XM_011526842.1:c.1622T>C | XP_011525144.1:p.Phe541Ser | |
| XM_011526843.1:c.938T>C | XP_011525145.1:p.Phe313Ser | |
| XM_011526844.1:c.938T>C | XP_011525146.1:p.Phe313Ser | |
| XM_011526840.2:c.2183T>C | XP_011525142.1:p.Phe728Ser | |
| XM_011526841.2:c.1769T>C | XP_011525143.1:p.Phe590Ser | |
| XM_011526844.2:c.938T>C | XP_011525146.1:p.Phe313Ser | |
| XM_017026665.1:c.3191T>C | XP_016882154.1:p.Phe1064Ser | |
| NM_001083961.2:c.3191T>C MANE Select | NP_001077430.1:p.Phe1064Ser | |
| NM_173636.5:c.3191T>C | NP_775907.4:p.Phe1064Ser |