COSMIC:
COSM148687 (not active)
Revel Score:
ENST00000377139 (MANE Select)
0.219
ENST00000309877
0.219
ENST00000377135
0.219
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65933005 (AFR)
Genomes Max Group AF
0.65412291 (AFR)
Exomes Max Group AF
0.66127255 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49659652C>G , CM000681.2:g.49659652C>G | GRCh38 |
| NC_000019.9:g.50162909C>G , CM000681.1:g.50162909C>G | GRCh37 |
| NC_000019.8:g.54854721C>G | NCBI36 |
| NG_031810.1:g.11224G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377139.8:c.1280G>C MANE Select | ENSP00000366344.3:p.Ser427Thr | |
| ENST00000309877.11:c.1280G>C | ENSP00000310127.6:p.Ser427Thr | |
| ENST00000377135.8:c.842G>C | ENSP00000366339.5:p.Ser281Thr | |
| ENST00000377139.7:c.1280G>C | ENSP00000366344.3:p.Ser427Thr | |
| ENST00000593922.5:c.842G>C | ENSP00000472601.1:p.Ser281Thr | |
| ENST00000596644.5:n.473G>C | ||
| ENST00000596765.5:c.461G>C | ENSP00000470512.1:p.Ser154Thr | |
| ENST00000596822.5:c.345G>C | ENSP00000468911.1:p.Glu115Asp | |
| ENST00000597198.5:c.1280G>C | ENSP00000469113.1:p.Ser427Thr | |
| ENST00000597636.5:c.*788G>C | ENSP00000470436.1:n.*788G>C | |
| ENST00000598808.5:c.842G>C | ENSP00000472582.1:p.Ser281Thr | |
| ENST00000599144.5:c.842G>C | ENSP00000470069.1:p.Ser281Thr | |
| ENST00000599223.5:c.899G>C | ENSP00000471358.1:p.Ser300Thr | |
| ENST00000599680.1:n.389G>C | ||
| ENST00000600022.5:c.461G>C | ENSP00000472700.1:p.Ser154Thr | |
| ENST00000600911.5:c.1164G>C | ENSP00000470431.1:p.Glu388Asp | |
| ENST00000601291.5:c.1296G>C | ENSP00000471896.1:p.Glu432Asp | |
| NM_001197122.1:c.1296G>C | NP_001184051.1:p.Glu432Asp | |
| NM_001197123.1:c.1175G>C | NP_001184052.1:p.Ser392Thr | |
| NM_001197124.1:c.899G>C | NP_001184053.1:p.Ser300Thr | |
| NM_001197125.1:c.842G>C | NP_001184054.1:p.Ser281Thr | |
| NM_001197126.1:c.842G>C | NP_001184055.1:p.Ser281Thr | |
| NM_001197127.1:c.461G>C | NP_001184056.1:p.Ser154Thr | |
| NM_001197128.1:c.461G>C | NP_001184057.1:p.Ser154Thr | |
| NM_001571.5:c.1280G>C | NP_001562.1:p.Ser427Thr | |
| NR_045568.1:n.1680G>C | ||
| XM_006723197.1:c.1296G>C | XP_006723260.1:p.Glu432Asp | |
| XM_006723198.1:c.1296G>C | XP_006723261.1:p.Glu432Asp | |
| XM_006723199.2:c.1280G>C | XP_006723262.1:p.Ser427Thr | |
| XM_006723200.1:c.1191G>C | XP_006723263.1:p.Glu397Asp | |
| XM_006723201.1:c.858G>C | XP_006723264.1:p.Glu286Asp | |
| XM_006723202.1:c.858G>C | XP_006723265.1:p.Glu286Asp | |
| XR_935819.1:n.2404G>C | ||
| XR_935820.1:n.2420G>C | ||
| XM_006723198.2:c.1296G>C | XP_006723261.1:p.Glu432Asp | |
| XM_017026766.2:c.1280G>C | XP_016882255.1:p.Ser427Thr | |
| XM_017026767.2:c.1280G>C | XP_016882256.1:p.Ser427Thr | |
| XM_024451492.1:c.1380G>C | XP_024307260.1:p.Glu460Asp | |
| XM_024451493.1:c.1364G>C | XP_024307261.1:p.Ser455Thr | |
| XM_024451494.1:c.858G>C | XP_024307262.1:p.Glu286Asp | |
| XM_024451495.1:c.858G>C | XP_024307263.1:p.Glu286Asp | |
| XM_024451496.1:c.842G>C | XP_024307264.1:p.Ser281Thr | |
| XM_024451497.1:c.842G>C | XP_024307265.1:p.Ser281Thr | |
| XM_024451498.1:c.842G>C | XP_024307266.1:p.Ser281Thr | |
| XR_001753678.1:n.2013G>C | ||
| XR_002958310.1:n.1971G>C | ||
| XR_002958311.1:n.1987G>C | ||
| XR_002958312.1:n.1790G>C | ||
| NM_001571.6:c.1280G>C MANE Select | NP_001562.1:p.Ser427Thr | |
| NM_001197122.2:c.1296G>C | NP_001184051.1:p.Glu432Asp | |
| NM_001197123.2:c.1175G>C | NP_001184052.1:p.Ser392Thr | |
| NM_001197124.2:c.899G>C | NP_001184053.1:p.Ser300Thr | |
| NM_001197126.2:c.842G>C | NP_001184055.1:p.Ser281Thr | |
| NM_001197127.2:c.461G>C | NP_001184056.1:p.Ser154Thr | |
| NM_001197128.2:c.461G>C | NP_001184057.1:p.Ser154Thr | |
| NR_045568.2:n.1662G>C | ||
| NM_001197125.2:c.842G>C | NP_001184054.1:p.Ser281Thr |