Linked Data
ClinVar Variation Id:
284699
ClinVar RCV Id:
RCV000267986
dbSNP Id:
rs201125812
ExAC:
17:73518111 G / T
gnomAD v2:
17-73518111-G-T
gnomAD v3:
17-75522030-G-T
gnomAD v4:
17-75522030-G-T
COSMIC:
COSM3672575
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75522030G>T , CM000679.2:g.75522030G>T | GRCh38 |
| NC_000017.10:g.73518111G>T , CM000679.1:g.73518111G>T | GRCh37 |
| NC_000017.9:g.71029706G>T | NCBI36 |
| NG_013041.1:g.10503G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.949G>T MANE Select | ENSP00000327487.6:p.Ala317Ser | |
| ENST00000434205.8:c.646G>T | ENSP00000406559.4:p.Ala216Ser | |
| ENST00000545228.3:c.949G>T | ENSP00000438169.3:p.Ala317Ser | |
| ENST00000579449.2:n.748G>T | ||
| ENST00000580013.6:n.1152G>T | ||
| ENST00000679370.1:n.1530G>T | ||
| ENST00000679429.1:c.*407G>T | ENSP00000505403.1:n.*407G>T | |
| ENST00000679443.1:n.1018G>T | ||
| ENST00000679782.1:c.949G>T | ENSP00000505995.1:p.Ala317Ser | |
| ENST00000679919.1:n.1018G>T | ||
| ENST00000679928.1:c.*560G>T | ENSP00000506071.1:n.*560G>T | |
| ENST00000680528.1:n.974G>T | ||
| ENST00000680999.1:c.949G>T | ENSP00000504984.1:p.Ala317Ser | |
| ENST00000681282.1:c.*195G>T | ENSP00000506339.1:n.*195G>T | |
| ENST00000333213.10:c.949G>T | ENSP00000327487.6:p.Ala317Ser | |
| ENST00000545228.2:c.38G>T | ||
| ENST00000578415.1:c.909G>T | ||
| ENST00000583173.5:c.482G>T | ENSP00000463619.1:p.Arg161Leu | |
| NM_207346.2:c.949G>T | NP_997229.2:p.Ala317Ser | |
| XM_005257229.2:c.949G>T | XP_005257286.1:p.Ala317Ser | |
| XM_006721821.2:c.646G>T | XP_006721884.1:p.Ala216Ser | |
| XM_011524616.1:c.949G>T | XP_011522918.1:p.Ala317Ser | |
| XM_011524617.1:c.949G>T | XP_011522919.1:p.Ala317Ser | |
| XM_011524618.1:c.949G>T | XP_011522920.1:p.Ala317Ser | |
| XR_243646.2:n.979G>T | ||
| XM_005257229.4:c.949G>T | XP_005257286.1:p.Ala317Ser | |
| XR_243646.4:n.985G>T | ||
| NM_207346.3:c.949G>T MANE Select | NP_997229.2:p.Ala317Ser |