Linked Data
dbSNP Id:
rs750809505
ExAC:
17:73520407 C / T
gnomAD v2:
17-73520407-C-T
gnomAD v4:
17-75524326-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75524326C>T , CM000679.2:g.75524326C>T | GRCh38 |
| NC_000017.10:g.73520407C>T , CM000679.1:g.73520407C>T | GRCh37 |
| NC_000017.9:g.71032002C>T | NCBI36 |
| NG_013041.1:g.12799C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.1495C>T MANE Select | ENSP00000327487.6:p.Pro499Ser | |
| ENST00000434205.8:c.1192C>T | ENSP00000406559.4:p.Pro398Ser | |
| ENST00000545228.3:c.1683C>T | ENSP00000438169.3:p.Ser561= | |
| ENST00000577197.2:n.693C>T | ||
| ENST00000579449.2:n.2235C>T | ||
| ENST00000580013.6:n.2639C>T | ||
| ENST00000679370.1:n.3017C>T | ||
| ENST00000679429.1:c.*953C>T | ENSP00000505403.1:n.*953C>T | |
| ENST00000679443.1:n.1564C>T | ||
| ENST00000679782.1:c.*194C>T | ENSP00000505995.1:n.*194C>T | |
| ENST00000679919.1:n.1766C>T | ||
| ENST00000679928.1:c.*2047C>T | ENSP00000506071.1:n.*2047C>T | |
| ENST00000680528.1:n.2461C>T | ||
| ENST00000680999.1:c.1708C>T | ENSP00000504984.1:p.Pro570Ser | |
| ENST00000681282.1:c.*1682C>T | ENSP00000506339.1:n.*1682C>T | |
| ENST00000333213.10:c.1495C>T | ENSP00000327487.6:p.Pro499Ser | |
| ENST00000545228.2:c.772C>T | ||
| ENST00000577197.1:n.243C>T | ||
| ENST00000579449.1:n.692C>T | ||
| NM_207346.2:c.1495C>T | NP_997229.2:p.Pro499Ser | |
| XM_005257229.2:c.1683C>T | XP_005257286.1:p.Ser561= | |
| XM_006721821.2:c.1380C>T | XP_006721884.1:p.Ser460= | |
| XM_011524616.1:c.1566C>T | XP_011522918.1:p.Ser522= | |
| XM_011524617.1:c.*77C>T | XP_011522919.1:n.*77C>T | |
| XM_011524618.1:c.1378C>T | XP_011522920.1:p.Pro460Ser | |
| XR_243646.2:n.1727C>T | ||
| XM_005257229.4:c.1683C>T | XP_005257286.1:p.Ser561= | |
| XR_001753015.1:n.72G>A | ||
| XR_001753016.1:n.73G>A | ||
| XR_243646.4:n.1733C>T | ||
| NM_207346.3:c.1495C>T MANE Select | NP_997229.2:p.Pro499Ser |